{"id":"https://openalex.org/W7166758024","doi":"https://doi.org/10.37903/vsgma.2026.2.14","title":"\u0425\u041e\u041d\u0414\u0420\u041e\u0414\u0418\u0421\u041f\u041b\u0410\u0417\u0418\u0418 \u0412 \u0414\u0415\u0422\u0421\u041a\u041e\u041c \u0412\u041e\u0417\u0420\u0410\u0421\u0422\u0415: \u0421\u041e\u0412\u0420\u0415\u041c\u0415\u041d\u041d\u042b\u0415 \u041f\u0420\u0415\u0414\u0421\u0422\u0410\u0412\u041b\u0415\u041d\u0418\u042f \u041e \u041c\u041e\u041b\u0415\u041a\u0423\u041b\u042f\u0420\u041d\u042b\u0425 \u041c\u0415\u0425\u0410\u041d\u0418\u0417\u041c\u0410\u0425, \u0414\u0418\u0410\u0413\u041d\u041e\u0421\u0422\u0418\u041a\u0415 \u0418 \u041c\u0423\u041b\u042c\u0422\u0418\u0414\u0418\u0421\u0426\u0418\u041f\u041b\u0418\u041d\u0410\u0420\u041d\u041e\u041c \u0412\u0415\u0414\u0415\u041d\u0418\u0418","display_name":"\u0425\u041e\u041d\u0414\u0420\u041e\u0414\u0418\u0421\u041f\u041b\u0410\u0417\u0418\u0418 \u0412 \u0414\u0415\u0422\u0421\u041a\u041e\u041c \u0412\u041e\u0417\u0420\u0410\u0421\u0422\u0415: \u0421\u041e\u0412\u0420\u0415\u041c\u0415\u041d\u041d\u042b\u0415 \u041f\u0420\u0415\u0414\u0421\u0422\u0410\u0412\u041b\u0415\u041d\u0418\u042f \u041e \u041c\u041e\u041b\u0415\u041a\u0423\u041b\u042f\u0420\u041d\u042b\u0425 \u041c\u0415\u0425\u0410\u041d\u0418\u0417\u041c\u0410\u0425, \u0414\u0418\u0410\u0413\u041d\u041e\u0421\u0422\u0418\u041a\u0415 \u0418 \u041c\u0423\u041b\u042c\u0422\u0418\u0414\u0418\u0421\u0426\u0418\u041f\u041b\u0418\u041d\u0410\u0420\u041d\u041e\u041c \u0412\u0415\u0414\u0415\u041d\u0418\u0418","publication_year":2026,"publication_date":"2026-06-30","ids":{"openalex":"https://openalex.org/W7166758024","doi":"https://doi.org/10.37903/vsgma.2026.2.14"},"language":"ru","primary_location":{"id":"doi:10.37903/vsgma.2026.2.14","doi":"https://doi.org/10.37903/vsgma.2026.2.14","is_oa":false,"landing_page_url":"https://doi.org/10.37903/vsgma.2026.2.14","pdf_url":null,"source":{"id":"https://openalex.org/S4210195006","display_name":"\u0412\u0435\u0441\u0442\u043d\u0438\u043a \u0421\u043c\u043e\u043b\u0435\u043d\u0441\u043a\u043e\u0439 \u0433\u043e\u0441\u0443\u0434\u0430\u0440\u0441\u0442\u0432\u0435\u043d\u043d\u043e\u0439 \u043c\u0435\u0434\u0438\u0446\u0438\u043d\u0441\u043a\u043e\u0439 \u0430\u043a\u0430\u0434\u0435\u043c\u0438\u0438","issn_l":"2225-6016","issn":["2225-6016","3033-5906"],"is_oa":false,"is_in_doaj":false,"is_core":false,"listed_in":["russia-white-list-4"],"host_organization":"https://openalex.org/I4210120801","host_organization_name":"Smolensk State Medical University","host_organization_lineage":["https://openalex.org/I4210120801"],"host_organization_lineage_names":[],"type":"journal"},"license":null,"license_id":null,"version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"\u0412\u0435\u0441\u0442\u043d\u0438\u043a \u0441\u043c\u043e\u043b\u0435\u043d\u0441\u043a\u043e\u0439 \u0433\u043e\u0441\u0443\u0434\u0430\u0440\u0441\u0442\u0432\u0435\u043d\u043d\u043e\u0439 \u043c\u0435\u0434\u0438\u0446\u0438\u043d\u0441\u043a\u043e\u0439 \u0430\u043a\u0430\u0434\u0435\u043c\u0438\u0438","raw_type":"journal-article"},"parent_works":[],"lineage":["https://openalex.org/W7166758024"],"child_works_count":0,"type":"article","is_traditional":true,"indexed_in":["crossref"],"open_access":{"is_oa":true,"oa_status":"green","oa_url":"https://cyberleninka.ru/article/n/hondrodisplazii-v-detskom-vozraste-sovremennye-predstavleniya-o-molekulyarnyh-mehanizmah-diagnostike-i-multidistsiplinarnom-vedenii/pdf","any_repository_has_fulltext":true},"authorships":[{"author_position":"first","author":{"id":"https://openalex.org/A5010828439","display_name":"\u041a\u0430\u0441\u044b\u043c\u043e\u0432\u0430 \u0415\u043a\u0430\u0442\u0435\u0440\u0438\u043d\u0430 \u0411\u0430\u0448\u0438\u0440\u043e\u0432\u043d\u0430","orcid":"https://orcid.org/0000-0001-5694-5394","observed_orcids":["https://orcid.org/0000-0001-5694-5394"]},"institutions":[{"id":"https://openalex.org/I4210112215","display_name":"Astrakhan State Medical University","ror":"https://ror.org/01yvmh709","country_code":"RU","type":"education","lineage":["https://openalex.org/I4210112215"]}],"countries":["RU"],"is_corresponding":false,"raw_author_name":"\u0415\u043a\u0430\u0442\u0435\u0440\u0438\u043d\u0430 \u0411\u0430\u0448\u0438\u0440\u043e\u0432\u043d\u0430 \u041a\u0430\u0441\u044b\u043c\u043e\u0432\u0430","raw_affiliation_strings":["\u0410\u0441\u0442\u0440\u0430\u0445\u0430\u043d\u0441\u043a\u0438\u0439 \u0433\u043e\u0441\u0443\u0434\u0430\u0440\u0441\u0442\u0432\u0435\u043d\u043d\u044b\u0439 \u043c\u0435\u0434\u0438\u0446\u0438\u043d\u0441\u043a\u0438\u0439 \u0443\u043d\u0438\u0432\u0435\u0440\u0441\u0438\u0442\u0435\u0442"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"\u0410\u0441\u0442\u0440\u0430\u0445\u0430\u043d\u0441\u043a\u0438\u0439 \u0433\u043e\u0441\u0443\u0434\u0430\u0440\u0441\u0442\u0432\u0435\u043d\u043d\u044b\u0439 \u043c\u0435\u0434\u0438\u0446\u0438\u043d\u0441\u043a\u0438\u0439 \u0443\u043d\u0438\u0432\u0435\u0440\u0441\u0438\u0442\u0435\u0442","institution_ids":["https://openalex.org/I4210112215"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5138911482","display_name":"\u0410\u0432\u0435\u0434\u0438\u0441\u044f\u043d \u042d. \u0412.","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I4210112215","display_name":"Astrakhan State Medical University","ror":"https://ror.org/01yvmh709","country_code":"RU","type":"education","lineage":["https://openalex.org/I4210112215"]}],"countries":["RU"],"is_corresponding":false,"raw_author_name":"\u042d\u0434\u0443\u0430\u0440\u0434 \u0412\u0430\u043b\u0435\u0440\u044c\u0435\u0432\u0438\u0447 \u0410\u0432\u0435\u0434\u0438\u0441\u044f\u043d","raw_affiliation_strings":["\u0410\u0441\u0442\u0440\u0430\u0445\u0430\u043d\u0441\u043a\u0438\u0439 \u0433\u043e\u0441\u0443\u0434\u0430\u0440\u0441\u0442\u0432\u0435\u043d\u043d\u044b\u0439 \u043c\u0435\u0434\u0438\u0446\u0438\u043d\u0441\u043a\u0438\u0439 \u0443\u043d\u0438\u0432\u0435\u0440\u0441\u0438\u0442\u0435\u0442"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"\u0410\u0441\u0442\u0440\u0430\u0445\u0430\u043d\u0441\u043a\u0438\u0439 \u0433\u043e\u0441\u0443\u0434\u0430\u0440\u0441\u0442\u0432\u0435\u043d\u043d\u044b\u0439 \u043c\u0435\u0434\u0438\u0446\u0438\u043d\u0441\u043a\u0438\u0439 \u0443\u043d\u0438\u0432\u0435\u0440\u0441\u0438\u0442\u0435\u0442","institution_ids":["https://openalex.org/I4210112215"]}]},{"author_position":"last","author":{"id":"https://openalex.org/A5139649165","display_name":"\u0410\u0440\u043a\u0430\u0434\u0438\u0439 \u0412\u0430\u043b\u0435\u0440\u044c\u0435\u0432\u0438\u0447 \u0410\u0432\u0435\u0434\u0438\u0441\u044f\u043d","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I4210112215","display_name":"Astrakhan State Medical University","ror":"https://ror.org/01yvmh709","country_code":"RU","type":"education","lineage":["https://openalex.org/I4210112215"]}],"countries":["RU"],"is_corresponding":false,"raw_author_name":"\u0410\u0440\u043a\u0430\u0434\u0438\u0439 \u0412\u0430\u043b\u0435\u0440\u044c\u0435\u0432\u0438\u0447 \u0410\u0432\u0435\u0434\u0438\u0441\u044f\u043d","raw_affiliation_strings":["\u0410\u0441\u0442\u0440\u0430\u0445\u0430\u043d\u0441\u043a\u0438\u0439 \u0433\u043e\u0441\u0443\u0434\u0430\u0440\u0441\u0442\u0432\u0435\u043d\u043d\u044b\u0439 \u043c\u0435\u0434\u0438\u0446\u0438\u043d\u0441\u043a\u0438\u0439 \u0443\u043d\u0438\u0432\u0435\u0440\u0441\u0438\u0442\u0435\u0442"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"\u0410\u0441\u0442\u0440\u0430\u0445\u0430\u043d\u0441\u043a\u0438\u0439 \u0433\u043e\u0441\u0443\u0434\u0430\u0440\u0441\u0442\u0432\u0435\u043d\u043d\u044b\u0439 \u043c\u0435\u0434\u0438\u0446\u0438\u043d\u0441\u043a\u0438\u0439 \u0443\u043d\u0438\u0432\u0435\u0440\u0441\u0438\u0442\u0435\u0442","institution_ids":["https://openalex.org/I4210112215"]}]}],"institutions":[],"countries_distinct_count":1,"institutions_distinct_count":1,"corresponding_author_ids":[],"corresponding_institution_ids":["https://openalex.org/I4210112215"],"apc_list":null,"apc_paid":null,"fwci":0.0,"has_fulltext":true,"cited_by_count":0,"citation_normalized_percentile":{"value":0.0,"is_in_top_1_percent":false,"is_in_top_10_percent":false},"cited_by_percentile_year":null,"biblio":{"volume":"25","issue":"2","first_page":"107","last_page":"112"},"is_retracted":false,"is_paratext":false,"is_xpac":false,"primary_topic":{"id":"https://openalex.org/T11310","display_name":"Connective tissue disorders research","score":0.8515999913215637,"subfield":{"id":"https://openalex.org/subfields/1311","display_name":"Genetics"},"field":{"id":"https://openalex.org/fields/13","display_name":"Biochemistry, Genetics and Molecular Biology"},"domain":{"id":"https://openalex.org/domains/1","display_name":"Life Sciences"}},"topics":[{"id":"https://openalex.org/T11310","display_name":"Connective tissue disorders research","score":0.8515999913215637,"subfield":{"id":"https://openalex.org/subfields/1311","display_name":"Genetics"},"field":{"id":"https://openalex.org/fields/13","display_name":"Biochemistry, Genetics and Molecular Biology"},"domain":{"id":"https://openalex.org/domains/1","display_name":"Life Sciences"}},{"id":"https://openalex.org/T10975","display_name":"Bone Tumor Diagnosis and Treatments","score":0.062300000339746475,"subfield":{"id":"https://openalex.org/subfields/2732","display_name":"Orthopedics and Sports Medicine"},"field":{"id":"https://openalex.org/fields/27","display_name":"Medicine"},"domain":{"id":"https://openalex.org/domains/4","display_name":"Health Sciences"}},{"id":"https://openalex.org/T10105","display_name":"Osteoarthritis Treatment and Mechanisms","score":0.0544000007212162,"subfield":{"id":"https://openalex.org/subfields/2745","display_name":"Rheumatology"},"field":{"id":"https://openalex.org/fields/27","display_name":"Medicine"},"domain":{"id":"https://openalex.org/domains/4","display_name":"Health Sciences"}}],"keywords":[{"id":"https://openalex.org/keywords/chondrodysplasia","display_name":"chondrodysplasia","score":0.8100000023841858},{"id":"https://openalex.org/keywords/skeletal-dysplasia","display_name":"skeletal dysplasia","score":0.8989999890327454},{"id":"https://openalex.org/keywords/children","display_name":"children","score":0.5659999847412109},{"id":"https://openalex.org/keywords/achondroplasia","display_name":"achondroplasia","score":0.875},{"id":"https://openalex.org/keywords/hypochondroplasia","display_name":"hypochondroplasia","score":0.968999981880188},{"id":"https://openalex.org/keywords/thanatophoric-dysplasia","display_name":"thanatophoric dysplasia","score":0.878000020980835},{"id":"https://openalex.org/keywords/fgfr3","display_name":"FGFR3","score":0.7710000276565552},{"id":"https://openalex.org/keywords/endochondral-ossification","display_name":"endochondral ossification","score":0.925000011920929},{"id":"https://openalex.org/keywords/molecular-genetic-diagnosis","display_name":"molecular genetic diagnosis","score":0.5649999976158142},{"id":"https://openalex.org/keywords/whole-exome-sequencing","display_name":"exome sequencing","score":0.6919999718666077},{"id":"https://openalex.org/keywords/pathogenetic-therapy","display_name":"pathogenetic therapy","score":0.5320000052452087},{"id":"https://openalex.org/keywords/multidisciplinary-care","display_name":"multidisciplinary care","score":0.7210000157356262},{"id":"https://openalex.org/keywords/skeletal-deformities","display_name":"skeletal deformities","score":0.5249999761581421},{"id":"https://openalex.org/keywords/short-stature","display_name":"short stature","score":0.5260000228881836},{"id":"https://openalex.org/keywords/macrocephaly","display_name":"macrocephaly","score":0.6629999876022339}],"concepts":[{"id":"https://openalex.org/C41008148","wikidata":"https://www.wikidata.org/wiki/Q21198","display_name":"Computer science","level":0,"score":0.2745000123977661},{"id":"https://openalex.org/C116834253","wikidata":"https://www.wikidata.org/wiki/Q2039217","display_name":"Identification (biology)","level":2,"score":0.23649999499320984},{"id":"https://openalex.org/C18762648","wikidata":"https://www.wikidata.org/wiki/Q42213","display_name":"Work (physics)","level":2,"score":0.20730000734329224},{"id":"https://openalex.org/C90673727","wikidata":"https://www.wikidata.org/wiki/Q901718","display_name":"Product (mathematics)","level":2,"score":0.20160000026226044},{"id":"https://openalex.org/C98045186","wikidata":"https://www.wikidata.org/wiki/Q205663","display_name":"Process (computing)","level":2,"score":0.19499999284744263},{"id":"https://openalex.org/C177264268","wikidata":"https://www.wikidata.org/wiki/Q1514741","display_name":"Set (abstract data type)","level":2,"score":0.1890999972820282},{"id":"https://openalex.org/C127413603","wikidata":"https://www.wikidata.org/wiki/Q11023","display_name":"Engineering","level":0,"score":0.18289999663829803},{"id":"https://openalex.org/C61797465","wikidata":"https://www.wikidata.org/wiki/Q1188986","display_name":"Term (time)","level":2,"score":0.17910000681877136},{"id":"https://openalex.org/C154945302","wikidata":"https://www.wikidata.org/wiki/Q11660","display_name":"Artificial intelligence","level":1,"score":0.17249999940395355},{"id":"https://openalex.org/C2779343474","wikidata":"https://www.wikidata.org/wiki/Q3109175","display_name":"Context (archaeology)","level":2,"score":0.1671999990940094}],"mesh":[],"locations_count":2,"locations":[{"id":"doi:10.37903/vsgma.2026.2.14","doi":"https://doi.org/10.37903/vsgma.2026.2.14","is_oa":false,"landing_page_url":"https://doi.org/10.37903/vsgma.2026.2.14","pdf_url":null,"source":{"id":"https://openalex.org/S4210195006","display_name":"\u0412\u0435\u0441\u0442\u043d\u0438\u043a \u0421\u043c\u043e\u043b\u0435\u043d\u0441\u043a\u043e\u0439 \u0433\u043e\u0441\u0443\u0434\u0430\u0440\u0441\u0442\u0432\u0435\u043d\u043d\u043e\u0439 \u043c\u0435\u0434\u0438\u0446\u0438\u043d\u0441\u043a\u043e\u0439 \u0430\u043a\u0430\u0434\u0435\u043c\u0438\u0438","issn_l":"2225-6016","issn":["2225-6016","3033-5906"],"is_oa":false,"is_in_doaj":false,"is_core":false,"listed_in":["russia-white-list-4"],"host_organization":"https://openalex.org/I4210120801","host_organization_name":"Smolensk State Medical University","host_organization_lineage":["https://openalex.org/I4210120801"],"host_organization_lineage_names":[],"type":"journal"},"license":null,"license_id":null,"version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"\u0412\u0435\u0441\u0442\u043d\u0438\u043a \u0441\u043c\u043e\u043b\u0435\u043d\u0441\u043a\u043e\u0439 \u0433\u043e\u0441\u0443\u0434\u0430\u0440\u0441\u0442\u0432\u0435\u043d\u043d\u043e\u0439 \u043c\u0435\u0434\u0438\u0446\u0438\u043d\u0441\u043a\u043e\u0439 \u0430\u043a\u0430\u0434\u0435\u043c\u0438\u0438","raw_type":"journal-article"},{"id":"pmh:https://cyberleninka.ru/article/n/hondrodisplazii-v-detskom-vozraste-sovremennye-predstavleniya-o-molekulyarnyh-mehanizmah-diagnostike-i-multidistsiplinarnom-vedenii","doi":null,"is_oa":true,"landing_page_url":"https://cyberleninka.ru/article/n/hondrodisplazii-v-detskom-vozraste-sovremennye-predstavleniya-o-molekulyarnyh-mehanizmah-diagnostike-i-multidistsiplinarnom-vedenii","pdf_url":"https://cyberleninka.ru/article/n/hondrodisplazii-v-detskom-vozraste-sovremennye-predstavleniya-o-molekulyarnyh-mehanizmah-diagnostike-i-multidistsiplinarnom-vedenii/pdf","source":{"id":"https://openalex.org/S4210195006","display_name":"\u0412\u0435\u0441\u0442\u043d\u0438\u043a \u0421\u043c\u043e\u043b\u0435\u043d\u0441\u043a\u043e\u0439 \u0433\u043e\u0441\u0443\u0434\u0430\u0440\u0441\u0442\u0432\u0435\u043d\u043d\u043e\u0439 \u043c\u0435\u0434\u0438\u0446\u0438\u043d\u0441\u043a\u043e\u0439 \u0430\u043a\u0430\u0434\u0435\u043c\u0438\u0438","issn_l":"2225-6016","issn":["2225-6016","3033-5906"],"is_oa":false,"is_in_doaj":false,"is_core":false,"listed_in":["russia-white-list-4"],"host_organization":"https://openalex.org/I4210120801","host_organization_name":"Smolensk State Medical University","host_organization_lineage":["https://openalex.org/I4210120801"],"host_organization_lineage_names":[],"type":"journal"},"license":"cc-by","license_id":"https://openalex.org/licenses/cc-by","version":"submittedVersion","is_accepted":false,"is_published":false,"raw_source_name":null,"raw_type":"text"}],"best_oa_location":{"id":"pmh:https://cyberleninka.ru/article/n/hondrodisplazii-v-detskom-vozraste-sovremennye-predstavleniya-o-molekulyarnyh-mehanizmah-diagnostike-i-multidistsiplinarnom-vedenii","doi":null,"is_oa":true,"landing_page_url":"https://cyberleninka.ru/article/n/hondrodisplazii-v-detskom-vozraste-sovremennye-predstavleniya-o-molekulyarnyh-mehanizmah-diagnostike-i-multidistsiplinarnom-vedenii","pdf_url":"https://cyberleninka.ru/article/n/hondrodisplazii-v-detskom-vozraste-sovremennye-predstavleniya-o-molekulyarnyh-mehanizmah-diagnostike-i-multidistsiplinarnom-vedenii/pdf","source":{"id":"https://openalex.org/S4210195006","display_name":"\u0412\u0435\u0441\u0442\u043d\u0438\u043a \u0421\u043c\u043e\u043b\u0435\u043d\u0441\u043a\u043e\u0439 \u0433\u043e\u0441\u0443\u0434\u0430\u0440\u0441\u0442\u0432\u0435\u043d\u043d\u043e\u0439 \u043c\u0435\u0434\u0438\u0446\u0438\u043d\u0441\u043a\u043e\u0439 \u0430\u043a\u0430\u0434\u0435\u043c\u0438\u0438","issn_l":"2225-6016","issn":["2225-6016","3033-5906"],"is_oa":false,"is_in_doaj":false,"is_core":false,"listed_in":["russia-white-list-4"],"host_organization":"https://openalex.org/I4210120801","host_organization_name":"Smolensk State Medical University","host_organization_lineage":["https://openalex.org/I4210120801"],"host_organization_lineage_names":[],"type":"journal"},"license":"cc-by","license_id":"https://openalex.org/licenses/cc-by","version":"submittedVersion","is_accepted":false,"is_published":false,"raw_source_name":null,"raw_type":"text"},"sustainable_development_goals":[{"score":1.0,"display_name":"Good health and well-being","id":"https://metadata.un.org/sdg/3"}],"study_designs":[],"awards":[],"funders":[],"has_content":{"grobid_xml":true,"pdf":true},"content_urls":{"pdf":"https://content.openalex.org/works/W7166758024.pdf","grobid_xml":"https://content.openalex.org/works/W7166758024.grobid-xml"},"referenced_works_count":33,"referenced_works":["https://openalex.org/W1520227890","https://openalex.org/W1868986848","https://openalex.org/W1872908875","https://openalex.org/W1992473789","https://openalex.org/W2054195724","https://openalex.org/W2066759027","https://openalex.org/W2095104340","https://openalex.org/W2107972061","https://openalex.org/W2134736479","https://openalex.org/W2158784920","https://openalex.org/W2162850570","https://openalex.org/W2192347927","https://openalex.org/W2304374694","https://openalex.org/W2318816553","https://openalex.org/W2511276636","https://openalex.org/W2520427475","https://openalex.org/W2561993249","https://openalex.org/W2740019998","https://openalex.org/W2783798552","https://openalex.org/W2793146419","https://openalex.org/W2899774762","https://openalex.org/W2908116166","https://openalex.org/W2913359674","https://openalex.org/W2947905904","https://openalex.org/W3032281853","https://openalex.org/W3082819488","https://openalex.org/W3137001490","https://openalex.org/W3209434276","https://openalex.org/W4229064396","https://openalex.org/W4308314121","https://openalex.org/W4320491874","https://openalex.org/W4379511049","https://openalex.org/W4381549332"],"related_works":["https://openalex.org/W4411614549","https://openalex.org/W6958518681","https://openalex.org/W2596908352","https://openalex.org/W2736303331","https://openalex.org/W2019592083","https://openalex.org/W7034959604","https://openalex.org/W6958801424","https://openalex.org/W4250948016","https://openalex.org/W3174284109"],"abstract_inverted_index":{"\u0426\u0435\u043b\u044c.":[0],"\u041f\u0440\u043e\u0432\u0435\u0441\u0442\u0438":[1],"\u043a\u043e\u043c\u043f\u043b\u0435\u043a\u0441\u043d\u044b\u0439":[2],"\u0430\u043d\u0430\u043b\u0438\u0437":[3,41],"\u0441\u043e\u0432\u0440\u0435\u043c\u0435\u043d\u043d\u044b\u0445":[4,42],"\u0434\u0430\u043d\u043d\u044b\u0445":[5,62,110],"\u043e":[6,25],"\u043c\u043e\u043b\u0435\u043a\u0443\u043b\u044f\u0440\u043d\u043e-\u0433\u0435\u043d\u0435\u0442\u0438\u0447\u0435\u0441\u043a\u0438\u0445":[7],"\u043e\u0441\u043d\u043e\u0432\u0430\u0445,":[8],"\u0434\u0438\u0430\u0433\u043d\u043e\u0441\u0442\u0438\u0447\u0435\u0441\u043a\u0438\u0445":[9],"\u043f\u043e\u0434\u0445\u043e\u0434\u0430\u0445":[10],"\u0438":[11,32,44,50,59,67,79,119,143,192,206,232],"\u043f\u0440\u0438\u043d\u0446\u0438\u043f\u0430\u0445":[12],"\u0432\u0435\u0434\u0435\u043d\u0438\u044f":[13],"\u043d\u0430\u0438\u0431\u043e\u043b\u0435\u0435":[14],"\u0440\u0430\u0441\u043f\u0440\u043e\u0441\u0442\u0440\u0430\u043d\u0435\u043d\u043d\u044b\u0445":[15],"\u0444\u043e\u0440\u043c":[16,93,238],"\u0445\u043e\u043d\u0434\u0440\u043e\u0434\u0438\u0441\u043f\u043b\u0430\u0437\u0438\u0439":[17],"\u0443":[18,165],"\u0434\u0435\u0442\u0435\u0439.":[19],"\u041e\u0431\u0437\u043e\u0440":[20],"\u043d\u0430\u043f\u0440\u0430\u0432\u043b\u0435\u043d":[21],"\u043d\u0430":[22,107,134],"\u0441\u0438\u0441\u0442\u0435\u043c\u0430\u0442\u0438\u0437\u0430\u0446\u0438\u044e":[23],"\u0437\u043d\u0430\u043d\u0438\u0439":[24],"\u043a\u043b\u044e\u0447\u0435\u0432\u044b\u0445":[26],"\u0441\u0438\u0433\u043d\u0430\u043b\u044c\u043d\u044b\u0445":[27,218],"\u043f\u0443\u0442\u044f\u0445,":[28],"\u043a\u043b\u0438\u043d\u0438\u043a\u043e-\u0440\u0435\u043d\u0442\u0433\u0435\u043d\u043e\u043b\u043e\u0433\u0438\u0447\u0435\u0441\u043a\u0438\u0445":[29],"\u043a\u0440\u0438\u0442\u0435\u0440\u0438\u044f\u0445":[30],"\u0434\u0438\u0430\u0433\u043d\u043e\u0441\u0442\u0438\u043a\u0438":[31],"\u0438\u043d\u043d\u043e\u0432\u0430\u0446\u0438\u043e\u043d\u043d\u044b\u0445":[33],"\u043c\u0435\u0442\u043e\u0434\u0430\u0445":[34],"\u0442\u0435\u0440\u0430\u043f\u0438\u0438,":[35],"\u0432\u043a\u043b\u044e\u0447\u0430\u044f":[36],"\u043f\u0430\u0442\u043e\u0433\u0435\u043d\u0435\u0442\u0438\u0447\u0435\u0441\u043a\u043e\u0435":[37],"\u043b\u0435\u0447\u0435\u043d\u0438\u0435.":[38],"\u041c\u0435\u0442\u043e\u0434\u0438\u043a\u0430.":[39],"\u041f\u0440\u043e\u0432\u0435\u0434\u0435\u043d":[40],"\u043e\u0442\u0435\u0447\u0435\u0441\u0442\u0432\u0435\u043d\u043d\u044b\u0445":[43],"\u0437\u0430\u0440\u0443\u0431\u0435\u0436\u043d\u044b\u0445":[45],"\u043b\u0438\u0442\u0435\u0440\u0430\u0442\u0443\u0440\u043d\u044b\u0445":[46],"\u0438\u0441\u0442\u043e\u0447\u043d\u0438\u043a\u043e\u0432,":[47],"\u043d\u0430\u0443\u0447\u043d\u044b\u0445":[48],"\u043f\u0443\u0431\u043b\u0438\u043a\u0430\u0446\u0438\u0439":[49],"\u043a\u043b\u0438\u043d\u0438\u0447\u0435\u0441\u043a\u0438\u0445":[51,109],"\u0440\u0435\u043a\u043e\u043c\u0435\u043d\u0434\u0430\u0446\u0438\u0439,":[52],"\u043f\u043e\u0441\u0432\u044f\u0449\u0435\u043d\u043d\u044b\u0445":[53],"\u043f\u0440\u043e\u0431\u043b\u0435\u043c\u0435":[54],"\u043e\u0441\u0442\u0435\u043e\u0445\u043e\u043d\u0434\u0440\u043e\u0434\u0438\u0441\u043f\u043b\u0430\u0437\u0438\u0439.":[55],"\u0418\u0441\u043f\u043e\u043b\u044c\u0437\u043e\u0432\u0430\u043d\u044b":[56],"\u043c\u0435\u0442\u043e\u0434\u044b":[57],"\u0441\u0438\u0441\u0442\u0435\u043c\u0430\u0442\u0438\u0437\u0430\u0446\u0438\u0438":[58],"\u0441\u0440\u0430\u0432\u043d\u0438\u0442\u0435\u043b\u044c\u043d\u043e\u0433\u043e":[60],"\u0430\u043d\u0430\u043b\u0438\u0437\u0430":[61],"\u043f\u043e":[63],"\u044d\u0442\u0438\u043e\u043b\u043e\u0433\u0438\u0438,":[64],"\u043f\u0430\u0442\u043e\u0433\u0435\u043d\u0435\u0437\u0443,":[65],"\u0434\u0438\u0430\u0433\u043d\u043e\u0441\u0442\u0438\u043a\u0435":[66,184],"\u043b\u0435\u0447\u0435\u043d\u0438\u044e":[68],"\u0434\u0430\u043d\u043d\u043e\u0439":[69],"\u0433\u0440\u0443\u043f\u043f\u044b":[70],"\u0437\u0430\u0431\u043e\u043b\u0435\u0432\u0430\u043d\u0438\u0439.":[71,248],"\u0420\u0435\u0437\u0443\u043b\u044c\u0442\u0430\u0442\u044b.":[72],"\u0423\u0441\u0442\u0430\u043d\u043e\u0432\u043b\u0435\u043d\u043e,":[73],"\u0447\u0442\u043e":[74,152,240],"\u0445\u043e\u043d\u0434\u0440\u043e\u0434\u0438\u0441\u043f\u043b\u0430\u0437\u0438\u0438":[75],"\u043f\u0440\u0435\u0434\u0441\u0442\u0430\u0432\u043b\u044f\u044e\u0442":[76],"\u0441\u043e\u0431\u043e\u0439":[77],"\u043a\u043b\u0438\u043d\u0438\u0447\u0435\u0441\u043a\u0438":[78],"\u0433\u0435\u043d\u0435\u0442\u0438\u0447\u0435\u0441\u043a\u0438":[80],"\u0433\u0435\u0442\u0435\u0440\u043e\u0433\u0435\u043d\u043d\u0443\u044e":[81],"\u0433\u0440\u0443\u043f\u043f\u0443":[82],"\u0437\u0430\u0431\u043e\u043b\u0435\u0432\u0430\u043d\u0438\u0439,":[83],"\u043e\u0431\u0443\u0441\u043b\u043e\u0432\u043b\u0435\u043d\u043d\u044b\u0445":[84],"\u043d\u0430\u0440\u0443\u0448\u0435\u043d\u0438\u044f\u043c\u0438":[85],"\u044d\u043d\u0434\u043e\u0445\u043e\u043d\u0434\u0440\u0430\u043b\u044c\u043d\u043e\u0433\u043e":[86],"\u043e\u043a\u043e\u0441\u0442\u0435\u043d\u0435\u043d\u0438\u044f.":[87],"\u0426\u0435\u043d\u0442\u0440\u0430\u043b\u044c\u043d\u0443\u044e":[88],"\u0440\u043e\u043b\u044c":[89],"\u0432":[90,176],"\u043f\u0430\u0442\u043e\u0433\u0435\u043d\u0435\u0437\u0435":[91],"\u043c\u043d\u043e\u0433\u0438\u0445":[92],"(\u0430\u0445\u043e\u043d\u0434\u0440\u043e\u043f\u043b\u0430\u0437\u0438\u044f,":[94],"\u0433\u0438\u043f\u043e\u0445\u043e\u043d\u0434\u0440\u043e\u043f\u043b\u0430\u0437\u0438\u044f,":[95],"\u0442\u0430\u043d\u0430\u0442\u043e\u0444\u043e\u0440\u043d\u0430\u044f":[96],"\u0434\u0438\u0441\u043f\u043b\u0430\u0437\u0438\u044f)":[97],"\u0438\u0433\u0440\u0430\u0435\u0442":[98],"\u043a\u043e\u043d\u0441\u0442\u0438\u0442\u0443\u0442\u0438\u0432\u043d\u0430\u044f":[99],"\u0430\u043a\u0442\u0438\u0432\u0430\u0446\u0438\u044f":[100],"\u0441\u0438\u0433\u043d\u0430\u043b\u044c\u043d\u043e\u0433\u043e":[101],"\u043f\u0443\u0442\u0438":[102],"\u0440\u0435\u0446\u0435\u043f\u0442\u043e\u0440\u0430":[103],"FGFR3.":[104],"\u0414\u0438\u0430\u0433\u043d\u043e\u0441\u0442\u0438\u043a\u0430":[105],"\u043e\u0441\u043d\u043e\u0432\u044b\u0432\u0430\u0435\u0442\u0441\u044f":[106],"\u0438\u043d\u0442\u0435\u0433\u0440\u0430\u0446\u0438\u0438":[108],"(\u0434\u0438\u0441\u043f\u0440\u043e\u043f\u043e\u0440\u0446\u0438\u043e\u043d\u0430\u043b\u044c\u043d\u044b\u0439":[111],"\u043d\u0438\u0437\u043a\u043e\u0440\u043e\u0441\u043b\u043e\u0441\u0442\u044c,":[112],"\u043c\u0430\u043a\u0440\u043e\u0446\u0435\u0444\u0430\u043b\u0438\u044f,":[113],"\u0434\u0435\u0444\u043e\u0440\u043c\u0430\u0446\u0438\u0438":[114],"\u0441\u043a\u0435\u043b\u0435\u0442\u0430),":[115],"\u0445\u0430\u0440\u0430\u043a\u0442\u0435\u0440\u043d\u044b\u0445":[116],"\u0440\u0435\u043d\u0442\u0433\u0435\u043d\u043e\u043b\u043e\u0433\u0438\u0447\u0435\u0441\u043a\u0438\u0445":[117],"\u043f\u0440\u0438\u0437\u043d\u0430\u043a\u043e\u0432":[118],"\u043f\u043e\u0434\u0442\u0432\u0435\u0440\u0436\u0434\u0430\u0435\u0442\u0441\u044f":[120],"\u043c\u0435\u0442\u043e\u0434\u0430\u043c\u0438":[121],"\u043c\u043e\u043b\u0435\u043a\u0443\u043b\u044f\u0440\u043d\u043e-\u0433\u0435\u043d\u0435\u0442\u0438\u0447\u0435\u0441\u043a\u043e\u0433\u043e":[122],"\u0442\u0435\u0441\u0442\u0438\u0440\u043e\u0432\u0430\u043d\u0438\u044f":[123],"(NGS-\u043f\u0430\u043d\u0435\u043b\u0438,":[124],"\u043f\u043e\u043b\u043d\u043e\u044d\u043a\u0437\u043e\u043c\u043d\u043e\u0435":[125],"\u0441\u0435\u043a\u0432\u0435\u043d\u0438\u0440\u043e\u0432\u0430\u043d\u0438\u0435).":[126],"\u042d\u0444\u0444\u0435\u043a\u0442\u0438\u0432\u043d\u043e\u0435":[127],"\u0432\u0435\u0434\u0435\u043d\u0438\u0435":[128,198],"\u043f\u0430\u0446\u0438\u0435\u043d\u0442\u043e\u0432":[129],"\u0442\u0440\u0435\u0431\u0443\u0435\u0442":[130],"\u043c\u0443\u043b\u044c\u0442\u0438\u0434\u0438\u0441\u0446\u0438\u043f\u043b\u0438\u043d\u0430\u0440\u043d\u043e\u0433\u043e":[131],"\u043f\u043e\u0434\u0445\u043e\u0434\u0430,":[132],"\u043d\u0430\u043f\u0440\u0430\u0432\u043b\u0435\u043d\u043d\u043e\u0433\u043e":[133],"\u0441\u0432\u043e\u0435\u0432\u0440\u0435\u043c\u0435\u043d\u043d\u0443\u044e":[135],"\u043a\u043e\u0440\u0440\u0435\u043a\u0446\u0438\u044e":[136],"\u043e\u0441\u043b\u043e\u0436\u043d\u0435\u043d\u0438\u0439:":[137],"\u043d\u0435\u0439\u0440\u043e\u0445\u0438\u0440\u0443\u0440\u0433\u0438\u0447\u0435\u0441\u043a\u043e\u0435":[138],"\u043b\u0435\u0447\u0435\u043d\u0438\u0435":[139],"\u0441\u0442\u0435\u043d\u043e\u0437\u0430":[140],"\u043f\u043e\u0437\u0432\u043e\u043d\u043e\u0447\u043d\u043e\u0433\u043e":[141],"\u043a\u0430\u043d\u0430\u043b\u0430":[142],"\u043a\u043e\u043c\u043f\u0440\u0435\u0441\u0441\u0438\u0438":[144],"\u043c\u043e\u0437\u0433\u0430,":[145],"\u043e\u0440\u0442\u043e\u043f\u0435\u0434\u0438\u0447\u0435\u0441\u043a\u0430\u044f":[146],"\u043a\u043e\u0440\u0440\u0435\u043a\u0446\u0438\u044f":[147],"\u0434\u0435\u0444\u043e\u0440\u043c\u0430\u0446\u0438\u0439":[148],"\u043a\u043e\u043d\u0435\u0447\u043d\u043e\u0441\u0442\u0435\u0439,":[149],"\u041b\u041e\u0420-\u0440\u0435\u0430\u0431\u0438\u043b\u0438\u0442\u0430\u0446\u0438\u044f.":[150],"\u041f\u043e\u043a\u0430\u0437\u0430\u043d\u043e,":[151],"\u043e\u0434\u043e\u0431\u0440\u0435\u043d\u043d\u044b\u0439":[153],"\u043f\u0430\u0442\u043e\u0433\u0435\u043d\u0435\u0442\u0438\u0447\u0435\u0441\u043a\u0438\u0439":[154],"\u043f\u0440\u0435\u043f\u0430\u0440\u0430\u0442":[155],"\u0432\u043e\u0441\u043e\u0440\u0438\u0442\u0438\u0434,":[156,212],"\u0438\u043d\u0433\u0438\u0431\u0438\u0440\u0443\u044e\u0449\u0438\u0439":[157],"\u043f\u0443\u0442\u044c":[158,242],"FGFR3,":[159],"\u0441\u0442\u0430\u0442\u0438\u0441\u0442\u0438\u0447\u0435\u0441\u043a\u0438":[160],"\u0437\u043d\u0430\u0447\u0438\u043c\u043e":[161],"\u0443\u0432\u0435\u043b\u0438\u0447\u0438\u0432\u0430\u0435\u0442":[162],"\u0441\u043a\u043e\u0440\u043e\u0441\u0442\u044c":[163],"\u0440\u043e\u0441\u0442\u0430":[164],"\u0434\u0435\u0442\u0435\u0439":[166],"\u0441":[167,223],"\u0430\u0445\u043e\u043d\u0434\u0440\u043e\u043f\u043b\u0430\u0437\u0438\u0435\u0439,":[168],"\u043e\u0442\u043a\u0440\u044b\u0432\u0430\u044f":[169],"\u043d\u043e\u0432\u0443\u044e":[170],"\u044d\u0440\u0443":[171],"\u0442\u0430\u0440\u0433\u0435\u0442\u043d\u043e\u0439":[172],"\u0442\u0435\u0440\u0430\u043f\u0438\u0438.":[173],"\u0417\u0430\u043a\u043b\u044e\u0447\u0435\u043d\u0438\u0435.":[174],"\u0414\u043e\u0441\u0442\u0438\u0436\u0435\u043d\u0438\u044f":[175],"\u043e\u0431\u043b\u0430\u0441\u0442\u0438":[177],"\u043c\u043e\u043b\u0435\u043a\u0443\u043b\u044f\u0440\u043d\u043e\u0439":[178],"\u0433\u0435\u043d\u0435\u0442\u0438\u043a\u0438":[179],"\u043a\u0430\u0440\u0434\u0438\u043d\u0430\u043b\u044c\u043d\u043e":[180],"\u0438\u0437\u043c\u0435\u043d\u0438\u043b\u0438":[181],"\u043f\u043e\u0434\u0445\u043e\u0434\u044b":[182],"\u043a":[183,188,243],"\u0445\u043e\u043d\u0434\u0440\u043e\u0434\u0438\u0441\u043f\u043b\u0430\u0437\u0438\u0439,":[185],"\u043e\u0431\u0435\u0441\u043f\u0435\u0447\u0438\u0432\u0430\u044f":[186],"\u043f\u0435\u0440\u0435\u0445\u043e\u0434":[187],"\u044d\u0442\u0438\u043e\u043b\u043e\u0433\u0438\u0447\u0435\u0441\u043a\u0438":[189],"\u043e\u0431\u043e\u0441\u043d\u043e\u0432\u0430\u043d\u043d\u043e\u0439":[190],"\u043a\u043b\u0430\u0441\u0441\u0438\u0444\u0438\u043a\u0430\u0446\u0438\u0438":[191],"\u0442\u043e\u0447\u043d\u043e\u043c\u0443":[193],"\u043c\u0435\u0434\u0438\u043a\u043e-\u0433\u0435\u043d\u0435\u0442\u0438\u0447\u0435\u0441\u043a\u043e\u043c\u0443":[194],"\u043a\u043e\u043d\u0441\u0443\u043b\u044c\u0442\u0438\u0440\u043e\u0432\u0430\u043d\u0438\u044e.":[195],"\u041a\u043e\u043c\u043f\u043b\u0435\u043a\u0441\u043d\u043e\u0435":[196],"\u043c\u0443\u043b\u044c\u0442\u0438\u0434\u0438\u0441\u0446\u0438\u043f\u043b\u0438\u043d\u0430\u0440\u043d\u043e\u0435":[197],"\u043f\u043e\u0437\u0432\u043e\u043b\u044f\u0435\u0442":[199],"\u0441\u0443\u0449\u0435\u0441\u0442\u0432\u0435\u043d\u043d\u043e":[200],"\u0443\u043b\u0443\u0447\u0448\u0438\u0442\u044c":[201],"\u043a\u0430\u0447\u0435\u0441\u0442\u0432\u043e":[202],"\u0436\u0438\u0437\u043d\u0438":[203],"\u043f\u0430\u0446\u0438\u0435\u043d\u0442\u043e\u0432.":[204],"\u0420\u0430\u0437\u0440\u0430\u0431\u043e\u0442\u043a\u0430":[205],"\u0432\u043d\u0435\u0434\u0440\u0435\u043d\u0438\u0435":[207],"\u043f\u0430\u0442\u043e\u0433\u0435\u043d\u0435\u0442\u0438\u0447\u0435\u0441\u043a\u0438\u0445":[208],"\u043f\u0440\u0435\u043f\u0430\u0440\u0430\u0442\u043e\u0432,":[209],"\u0442\u0430\u043a\u0438\u0445":[210],"\u043a\u0430\u043a":[211],"\u0434\u043e\u043a\u0430\u0437\u044b\u0432\u0430\u044e\u0442":[213],"\u043f\u0440\u0438\u043d\u0446\u0438\u043f\u0438\u0430\u043b\u044c\u043d\u0443\u044e":[214],"\u0432\u043e\u0437\u043c\u043e\u0436\u043d\u043e\u0441\u0442\u044c":[215],"\u043c\u043e\u0434\u0443\u043b\u044f\u0446\u0438\u0438":[216],"\u043d\u0430\u0440\u0443\u0448\u0435\u043d\u043d\u044b\u0445":[217],"\u043f\u0443\u0442\u0435\u0439.":[219],"\u0414\u0430\u043b\u044c\u043d\u0435\u0439\u0448\u0438\u0435":[220],"\u043f\u0435\u0440\u0441\u043f\u0435\u043a\u0442\u0438\u0432\u044b":[221],"\u0441\u0432\u044f\u0437\u0430\u043d\u044b":[222],"\u0440\u0430\u0441\u0448\u0438\u0444\u0440\u043e\u0432\u043a\u043e\u0439":[224],"\u0444\u0443\u043d\u043a\u0446\u0438\u0439":[225],"\u043d\u043e\u0432\u044b\u0445":[226],"\u0433\u0435\u043d\u043e\u0432,":[227],"\u0440\u0430\u0437\u0440\u0430\u0431\u043e\u0442\u043a\u043e\u0439":[228],"\u043c\u0435\u0442\u043e\u0434\u043e\u0432":[229],"\u0433\u0435\u043d\u043d\u043e\u0439":[230],"\u0442\u0435\u0440\u0430\u043f\u0438\u0438":[231],"\u043f\u043e\u0438\u0441\u043a\u043e\u043c":[233],"\u044d\u0444\u0444\u0435\u043a\u0442\u0438\u0432\u043d\u044b\u0445":[234],"\u0441\u0440\u0435\u0434\u0441\u0442\u0432":[235],"\u0434\u043b\u044f":[236],"\u0440\u0435\u0434\u043a\u0438\u0445":[237],"\u0434\u0438\u0441\u043f\u043b\u0430\u0437\u0438\u0439,":[239],"\u043e\u0442\u043a\u0440\u044b\u0432\u0430\u0435\u0442":[241],"\u0438\u0437\u043c\u0435\u043d\u0435\u043d\u0438\u044e":[244],"\u0435\u0441\u0442\u0435\u0441\u0442\u0432\u0435\u043d\u043d\u043e\u0433\u043e":[245],"\u0442\u0435\u0447\u0435\u043d\u0438\u044f":[246],"\u044d\u0442\u0438\u0445":[247],"Objective.":[249],"To":[250],"perform":[251],"a":[252,344,367,415,466,487],"comprehensive":[253],"analysis":[254,300],"of":[255,268,273,301,329,332,350,355,360,373,386,423,427,435,469,484,506,512,522,535,549,558],"current":[256,302],"data":[257,321,388],"on":[258,311,322,383,531],"the":[259,269,323,361,371,384,420,448,482,519,533,552,556],"molecular":[260,402,475],"genetic":[261,403,496],"basis,":[262],"diagnostic":[263,287],"approaches,":[264],"and":[265,285,304,308,318,327,346,398,430,438,493,510,542],"management":[266,413,500],"principles":[267],"most":[270],"common":[271],"forms":[272,375,548],"chondrodysplasia":[274],"in":[275,370,460,465,474],"children":[276,461],"to":[277,342,454,481,489,554],"systematize":[278],"knowledge":[279],"about":[280],"key":[281],"signaling":[282,364,525],"pathways,":[283],"clinical":[284,309,387],"radiological":[286],"criteria,":[288],"as":[289,291,516],"well":[290],"innovative":[292],"therapeutic":[293],"methods,":[294,541],"including":[295],"pathogenetic":[296,443,513],"treatment.":[297],"Methods.":[298],"An":[299],"domestic":[303],"international":[305],"scientific":[306],"publications,":[307],"guidelines":[310],"osteochondrodysplasia":[312],"was":[313],"conducted.":[314],"Methods":[315],"for":[316,546],"systematizing":[317],"comparatively":[319],"analyzing":[320],"etiology,":[324],"pathogenesis,":[325],"diagnosis,":[326],"treatment":[328,426],"this":[330],"group":[331,349],"diseases":[333,351],"were":[334],"used.":[335],"Results.":[336],"Chondrodysplasias":[337],"has":[338,451],"been":[339,452],"found":[340],"out":[341],"represent":[343],"clinically":[345],"genetically":[347],"heterogeneous":[348],"caused":[352],"by":[353,401],"disorders":[354],"endochondral":[356],"ossification.":[357],"Constitutive":[358],"activation":[359],"FGFR3":[362,449],"receptor":[363],"pathway":[365],"plays":[366],"central":[368],"role":[369],"pathogenesis":[372],"many":[374],"(achondroplasia,":[376],"hypochondroplasia,":[377],"thanatophoric":[378],"dysplasia).":[379],"Diagnosis":[380],"is":[381,399],"based":[382,491],"integration":[385],"(disproportionate":[389],"short":[390],"stature,":[391],"macrocephaly,":[392],"skeletal":[393],"deformities),":[394],"characteristic":[395],"radiographic":[396],"features,":[397],"confirmed":[400],"testing":[404],"methods":[405],"(NGS":[406],"panels,":[407],"whole":[408],"exome":[409],"sequencing).":[410],"Effective":[411],"patient":[412],"requires":[414],"multidisciplinary":[416,499],"approach":[417],"aimed":[418],"at":[419],"timely":[421],"correction":[422,434],"complications:":[424],"neurosurgical":[425],"spinal":[428],"stenosis":[429],"brain":[431],"compression,":[432],"orthopedic":[433],"limb":[436],"deformities,":[437],"ENT":[439],"rehabilitation.":[440],"The":[441,508],"approved":[442],"drug":[444],"vosoritide,":[445,517],"which":[446],"inhibits":[447],"pathway,":[450],"shown":[453],"statistically":[455],"significantly":[456,502],"increase":[457],"growth":[458],"velocity":[459],"with":[462],"achondroplasia,":[463],"ushering":[464],"new":[467,536],"era":[468],"targeted":[470],"therapy.":[471],"Conclusion.":[472],"Advances":[473],"genetics":[476],"have":[477],"radically":[478],"changed":[479],"approaches":[480],"diagnosis":[483],"chondroplasia,":[485],"enabling":[486],"transition":[488],"etiologically":[490],"classification":[492],"accurate":[494],"medical":[495],"counseling.":[497],"Comprehensive":[498],"can":[501],"improve":[503],"patients'":[504],"quality":[505],"life.":[507],"development":[509],"introduction":[511],"drugs,":[514],"such":[515],"demonstrate":[518],"fundamental":[520],"possibility":[521],"modulating":[523],"disrupted":[524],"pathways.":[526],"Future":[527],"prospects":[528],"are":[529],"focused":[530],"deciphering":[532],"functions":[534],"genes,":[537],"developing":[538],"gene":[539],"therapy":[540],"finding":[543],"effective":[544],"treatments":[545],"rare":[547],"dysplasia,":[550],"opening":[551],"way":[553],"modifying":[555],"course":[557],"these":[559],"diseases.":[560]},"counts_by_year":[],"updated_date":"2026-11-14T11:04:58.165337","created_date":"2026-07-01T00:00:00"}
