{"id":"https://openalex.org/W7130516261","doi":"https://doi.org/10.3389/fendo.2026.1740770","title":"Genotype-phenotype correlations in PSACH/EDM1 patients with COMP gene variants: a comprehensive review of 830 cases","display_name":"Genotype-phenotype correlations in PSACH/EDM1 patients with COMP gene variants: a comprehensive review of 830 cases","publication_year":2026,"publication_date":"2026-02-19","ids":{"openalex":"https://openalex.org/W7130516261","doi":"https://doi.org/10.3389/fendo.2026.1740770","pmid":"https://pubmed.ncbi.nlm.nih.gov/41798190"},"language":"en","primary_location":{"id":"doi:10.3389/fendo.2026.1740770","doi":"https://doi.org/10.3389/fendo.2026.1740770","is_oa":true,"landing_page_url":"https://doi.org/10.3389/fendo.2026.1740770","pdf_url":"https://public-pages-files-2025.frontiersin.org/journals/endocrinology/articles/10.3389/fendo.2026.1740770/pdf","source":{"id":"https://openalex.org/S2597401208","display_name":"Frontiers in Endocrinology","issn_l":"1664-2392","issn":["1664-2392"],"is_oa":true,"is_in_doaj":true,"is_core":true,"listed_in":["cwts-core","doaj","ki-jl-1","medline","norway-1"],"host_organization":"https://openalex.org/P4310320527","host_organization_name":"Frontiers Media","host_organization_lineage":["https://openalex.org/P4310320527"],"host_organization_lineage_names":["Frontiers Media"],"type":"journal"},"license":"cc-by","license_id":"https://openalex.org/licenses/cc-by","version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"Frontiers in Endocrinology","raw_type":"journal-article"},"volume":null,"type":"article","indexed_in":["crossref","doaj","pubmed"],"open_access":{"is_oa":true,"oa_status":"gold","oa_url":"https://public-pages-files-2025.frontiersin.org/journals/endocrinology/articles/10.3389/fendo.2026.1740770/pdf","any_repository_has_fulltext":true},"authorships":[{"author_position":"first","author":{"id":"https://openalex.org/A5101635814","display_name":"Xiaolin Ni","orcid":"https://orcid.org/0000-0002-7442-1604","observed_orcids":["https://orcid.org/0000-0002-7442-1604","https://orcid.org/0000-0002-9009-1633"]},"institutions":[{"id":"https://openalex.org/I183519381","display_name":"Capital Medical University","ror":"https://ror.org/013xs5b60","country_code":"CN","type":"education","lineage":["https://openalex.org/I183519381"]},{"id":"https://openalex.org/I4210144404","display_name":"Beijing Children\u2019s Hospital","ror":"https://ror.org/04skmn292","country_code":"CN","type":"healthcare","lineage":["https://openalex.org/I4210144404"]}],"countries":["CN"],"is_corresponding":false,"raw_author_name":"Xiaolin Ni","raw_affiliation_strings":["Department of Endocrinology, Genetics and Metabolism, Beijing Children\u2019s Hospital, Capital Medical University, National Center for Children\u2019s Health"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Endocrinology, Genetics and Metabolism, Beijing Children\u2019s Hospital, Capital Medical University, National Center for Children\u2019s Health","institution_ids":["https://openalex.org/I183519381","https://openalex.org/I4210144404"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5041183325","display_name":"Liya Wei","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I183519381","display_name":"Capital Medical University","ror":"https://ror.org/013xs5b60","country_code":"CN","type":"education","lineage":["https://openalex.org/I183519381"]},{"id":"https://openalex.org/I4210144404","display_name":"Beijing Children\u2019s Hospital","ror":"https://ror.org/04skmn292","country_code":"CN","type":"healthcare","lineage":["https://openalex.org/I4210144404"]}],"countries":["CN"],"is_corresponding":false,"raw_author_name":"Liya Wei","raw_affiliation_strings":["Department of Endocrinology, Genetics and Metabolism, Beijing Children\u2019s Hospital, Capital Medical University, National Center for Children\u2019s Health"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Endocrinology, Genetics and Metabolism, Beijing Children\u2019s Hospital, Capital Medical University, National Center for Children\u2019s Health","institution_ids":["https://openalex.org/I183519381","https://openalex.org/I4210144404"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5112123098","display_name":"Xia Weibo","orcid":"https://orcid.org/0000-0001-7768-5536","observed_orcids":["https://orcid.org/0000-0001-7768-5536"]},"institutions":[{"id":"https://openalex.org/I200296433","display_name":"Chinese Academy of Medical Sciences & Peking Union Medical College","ror":"https://ror.org/02drdmm93","country_code":"CN","type":"education","lineage":["https://openalex.org/I200296433"]},{"id":"https://openalex.org/I2801228662","display_name":"Peking Union Medical College Hospital","ror":"https://ror.org/04jztag35","country_code":"CN","type":"healthcare","lineage":["https://openalex.org/I2801228662"]}],"countries":["CN"],"is_corresponding":true,"raw_author_name":"Weibo Xia","raw_affiliation_strings":["Department of Endocrinology, Key Laboratory of Endocrinology, National Commission of Health, State Key Laboratory of Complex Severe and Rare Diseases, Peking Union Medical College Hospital, Chinese Academy of Medical Sciences"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Endocrinology, Key Laboratory of Endocrinology, National Commission of Health, State Key Laboratory of Complex Severe and Rare Diseases, Peking Union Medical College Hospital, Chinese Academy of Medical Sciences","institution_ids":["https://openalex.org/I200296433","https://openalex.org/I2801228662"]}]},{"author_position":"last","author":{"id":"https://openalex.org/A5018570482","display_name":"Di Wu","orcid":"https://orcid.org/0000-0001-9640-0516","observed_orcids":["https://orcid.org/0000-0001-9640-0516"]},"institutions":[{"id":"https://openalex.org/I183519381","display_name":"Capital Medical University","ror":"https://ror.org/013xs5b60","country_code":"CN","type":"education","lineage":["https://openalex.org/I183519381"]},{"id":"https://openalex.org/I4210144404","display_name":"Beijing Children\u2019s Hospital","ror":"https://ror.org/04skmn292","country_code":"CN","type":"healthcare","lineage":["https://openalex.org/I4210144404"]}],"countries":["CN"],"is_corresponding":true,"raw_author_name":"Di Wu","raw_affiliation_strings":["Department of Endocrinology, Genetics and Metabolism, Beijing Children\u2019s Hospital, Capital Medical University, National Center for Children\u2019s Health"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Endocrinology, Genetics and Metabolism, Beijing Children\u2019s Hospital, Capital Medical University, National Center for Children\u2019s Health","institution_ids":["https://openalex.org/I183519381","https://openalex.org/I4210144404"]}]}],"institutions":[],"countries_distinct_count":1,"institutions_distinct_count":4,"corresponding_author_ids":["https://openalex.org/A5018570482","https://openalex.org/A5112123098"],"corresponding_institution_ids":["https://openalex.org/I183519381","https://openalex.org/I200296433","https://openalex.org/I2801228662","https://openalex.org/I4210144404"],"apc_list":{"value":3150,"currency":"CHF","value_usd":3801},"apc_paid":{"value":3150,"currency":"CHF","value_usd":3801},"fwci":0.0,"has_fulltext":true,"cited_by_count":0,"citation_normalized_percentile":{"value":0.10582656,"is_in_top_1_percent":false,"is_in_top_10_percent":false},"cited_by_percentile_year":null,"biblio":{"volume":"17","issue":null,"first_page":"1740770","last_page":"1740770"},"is_retracted":false,"is_paratext":false,"is_xpac":false,"primary_topic":{"id":"https://openalex.org/T11310","display_name":"Connective tissue disorders research","score":0.9937000274658203,"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":0.9937000274658203,"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/T10105","display_name":"Osteoarthritis Treatment and Mechanisms","score":0.0020000000949949026,"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"}},{"id":"https://openalex.org/T11642","display_name":"Genomics and Rare Diseases","score":0.0017000000225380063,"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"}}],"keywords":[{"id":"https://openalex.org/keywords/comp-gene","display_name":"COMP gene","score":0.8790000081062317},{"id":"https://openalex.org/keywords/genotype-phenotype-correlation","display_name":"genotype-phenotype correlation","score":0.9070000052452087},{"id":"https://openalex.org/keywords/cartilage-oligomeric-matrix-protein","display_name":"cartilage oligomeric matrix protein","score":0.9649999737739563},{"id":"https://openalex.org/keywords/missense-mutations","display_name":"missense mutations","score":0.8650000095367432},{"id":"https://openalex.org/keywords/skeletal-dysplasia","display_name":"skeletal dysplasia","score":0.6589999794960022},{"id":"https://openalex.org/keywords/short-stature","display_name":"short stature","score":0.46399998664855957},{"id":"https://openalex.org/keywords/lower-limb-deformity","display_name":"lower limb deformity","score":0.7609999775886536},{"id":"https://openalex.org/keywords/joint-laxity","display_name":"joint laxity","score":0.871999979019165},{"id":"https://openalex.org/keywords/osteoarthritis","display_name":"osteoarthritis","score":0.7450000047683716}],"concepts":[{"id":"https://openalex.org/C75563809","wikidata":"https://www.wikidata.org/wiki/Q2656896","display_name":"Missense mutation","level":4,"score":0.7639999985694885},{"id":"https://openalex.org/C71924100","wikidata":"https://www.wikidata.org/wiki/Q11190","display_name":"Medicine","level":0,"score":0.6665999889373779},{"id":"https://openalex.org/C2777871287","wikidata":"https://www.wikidata.org/wiki/Q7502090","display_name":"Short stature","level":2,"score":0.5480999946594238},{"id":"https://openalex.org/C104317684","wikidata":"https://www.wikidata.org/wiki/Q7187","display_name":"Gene","level":2,"score":0.5188999772071838},{"id":"https://openalex.org/C2780472190","wikidata":"https://www.wikidata.org/wiki/Q340594","display_name":"Achondroplasia","level":2,"score":0.5004000067710876},{"id":"https://openalex.org/C36823959","wikidata":"https://www.wikidata.org/wiki/Q373027","display_name":"Exon","level":3,"score":0.4991999864578247},{"id":"https://openalex.org/C2776164576","wikidata":"https://www.wikidata.org/wiki/Q62736","display_name":"Osteoarthritis","level":3,"score":0.47119998931884766},{"id":"https://openalex.org/C54355233","wikidata":"https://www.wikidata.org/wiki/Q7162","display_name":"Genetics","level":1,"score":0.4146000146865845},{"id":"https://openalex.org/C2778879140","wikidata":"https://www.wikidata.org/wiki/Q427157","display_name":"Metaphysis","level":2,"score":0.40139999985694885},{"id":"https://openalex.org/C2778232976","wikidata":"https://www.wikidata.org/wiki/Q15320335","display_name":"Cartilage oligomeric matrix protein","level":4,"score":0.37380000948905945},{"id":"https://openalex.org/C89551170","wikidata":"https://www.wikidata.org/wiki/Q1777274","display_name":"Bone age","level":2,"score":0.36730000376701355},{"id":"https://openalex.org/C126322002","wikidata":"https://www.wikidata.org/wiki/Q11180","display_name":"Internal medicine","level":1,"score":0.3650999963283539},{"id":"https://openalex.org/C60644358","wikidata":"https://www.wikidata.org/wiki/Q128570","display_name":"Bioinformatics","level":1,"score":0.359499990940094},{"id":"https://openalex.org/C2779134260","wikidata":"https://www.wikidata.org/wiki/Q12136","display_name":"Disease","level":2,"score":0.33559998869895935},{"id":"https://openalex.org/C2779982284","wikidata":"https://www.wikidata.org/wiki/Q1182746","display_name":"Deformity","level":2,"score":0.3319999873638153},{"id":"https://openalex.org/C2993967602","wikidata":"https://www.wikidata.org/wiki/Q5532932","display_name":"Genetic variants","level":4,"score":0.31630000472068787},{"id":"https://openalex.org/C207886595","wikidata":"https://www.wikidata.org/wiki/Q1456138","display_name":"Pathological","level":2,"score":0.31349998712539673},{"id":"https://openalex.org/C2780550940","wikidata":"https://www.wikidata.org/wiki/Q502730","display_name":"Cartilage","level":2,"score":0.31150001287460327},{"id":"https://openalex.org/C127716648","wikidata":"https://www.wikidata.org/wiki/Q104053","display_name":"Phenotype","level":3,"score":0.310699999332428},{"id":"https://openalex.org/C2777767895","wikidata":"https://www.wikidata.org/wiki/Q4691924","display_name":"Age of onset","level":3,"score":0.3009999990463257},{"id":"https://openalex.org/C2779100257","wikidata":"https://www.wikidata.org/wiki/Q582849","display_name":"Femoral head","level":2,"score":0.29280000925064087},{"id":"https://openalex.org/C2779701055","wikidata":"https://www.wikidata.org/wiki/Q929833","display_name":"Rare disease","level":3,"score":0.26499998569488525},{"id":"https://openalex.org/C64618202","wikidata":"https://www.wikidata.org/wiki/Q3733697","display_name":"Genetic heterogeneity","level":4,"score":0.260699987411499},{"id":"https://openalex.org/C86803240","wikidata":"https://www.wikidata.org/wiki/Q420","display_name":"Biology","level":0,"score":0.25209999084472656},{"id":"https://openalex.org/C2779146052","wikidata":"https://www.wikidata.org/wiki/Q708176","display_name":"Arthropathy","level":4,"score":0.2515000104904175}],"mesh":[{"descriptor_ui":"D000130","descriptor_name":"Achondroplasia","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":true},{"descriptor_ui":"D000130","descriptor_name":"Achondroplasia","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":true},{"descriptor_ui":"D000130","descriptor_name":"Achondroplasia","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":true},{"descriptor_ui":"D000130","descriptor_name":"Achondroplasia","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":true},{"descriptor_ui":"D000130","descriptor_name":"Achondroplasia","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":true},{"descriptor_ui":"D000130","descriptor_name":"Achondroplasia","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":true},{"descriptor_ui":"D000130","descriptor_name":"Achondroplasia","qualifier_ui":"Q000473","qualifier_name":"pathology","is_major_topic":true},{"descriptor_ui":"D000130","descriptor_name":"Achondroplasia","qualifier_ui":"Q000473","qualifier_name":"pathology","is_major_topic":true},{"descriptor_ui":"D000130","descriptor_name":"Achondroplasia","qualifier_ui":"Q000473","qualifier_name":"pathology","is_major_topic":true},{"descriptor_ui":"D000130","descriptor_name":"Achondroplasia","qualifier_ui":"Q000473","qualifier_name":"pathology","is_major_topic":true},{"descriptor_ui":"D000130","descriptor_name":"Achondroplasia","qualifier_ui":"Q000473","qualifier_name":"pathology","is_major_topic":true},{"descriptor_ui":"D000130","descriptor_name":"Achondroplasia","qualifier_ui":"Q000473","qualifier_name":"pathology","is_major_topic":true},{"descriptor_ui":"D005260","descriptor_name":"Female","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D005260","descriptor_name":"Female","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D005260","descriptor_name":"Female","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D005260","descriptor_name":"Female","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D005260","descriptor_name":"Female","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D005260","descriptor_name":"Female","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D006801","descriptor_name":"Humans","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D006801","descriptor_name":"Humans","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D006801","descriptor_name":"Humans","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D006801","descriptor_name":"Humans","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D006801","descriptor_name":"Humans","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D006801","descriptor_name":"Humans","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D008297","descriptor_name":"Male","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D008297","descriptor_name":"Male","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D008297","descriptor_name":"Male","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D008297","descriptor_name":"Male","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D008297","descriptor_name":"Male","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D008297","descriptor_name":"Male","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D009154","descriptor_name":"Mutation","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D009154","descriptor_name":"Mutation","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D009154","descriptor_name":"Mutation","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D010009","descriptor_name":"Osteochondrodysplasias","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":true},{"descriptor_ui":"D010009","descriptor_name":"Osteochondrodysplasias","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":true},{"descriptor_ui":"D010009","descriptor_name":"Osteochondrodysplasias","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":true},{"descriptor_ui":"D010009","descriptor_name":"Osteochondrodysplasias","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":true},{"descriptor_ui":"D010009","descriptor_name":"Osteochondrodysplasias","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":true},{"descriptor_ui":"D010009","descriptor_name":"Osteochondrodysplasias","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":true},{"descriptor_ui":"D010009","descriptor_name":"Osteochondrodysplasias","qualifier_ui":"Q000473","qualifier_name":"pathology","is_major_topic":true},{"descriptor_ui":"D010009","descriptor_name":"Osteochondrodysplasias","qualifier_ui":"Q000473","qualifier_name":"pathology","is_major_topic":true},{"descriptor_ui":"D010009","descriptor_name":"Osteochondrodysplasias","qualifier_ui":"Q000473","qualifier_name":"pathology","is_major_topic":true},{"descriptor_ui":"D010009","descriptor_name":"Osteochondrodysplasias","qualifier_ui":"Q000473","qualifier_name":"pathology","is_major_topic":true},{"descriptor_ui":"D010009","descriptor_name":"Osteochondrodysplasias","qualifier_ui":"Q000473","qualifier_name":"pathology","is_major_topic":true},{"descriptor_ui":"D010009","descriptor_name":"Osteochondrodysplasias","qualifier_ui":"Q000473","qualifier_name":"pathology","is_major_topic":true},{"descriptor_ui":"D010641","descriptor_name":"Phenotype","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D010641","descriptor_name":"Phenotype","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D010641","descriptor_name":"Phenotype","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D010641","descriptor_name":"Phenotype","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D010641","descriptor_name":"Phenotype","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D010641","descriptor_name":"Phenotype","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D014644","descriptor_name":"Genetic Variation","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D014644","descriptor_name":"Genetic Variation","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D014644","descriptor_name":"Genetic Variation","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D056726","descriptor_name":"Genetic Association Studies","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D056726","descriptor_name":"Genetic Association Studies","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D056726","descriptor_name":"Genetic Association Studies","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D056726","descriptor_name":"Genetic Association Studies","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D056726","descriptor_name":"Genetic Association Studies","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D056726","descriptor_name":"Genetic Association Studies","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D064236","descriptor_name":"Cartilage Oligomeric Matrix Protein","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":true},{"descriptor_ui":"D064236","descriptor_name":"Cartilage Oligomeric Matrix Protein","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":true},{"descriptor_ui":"D064236","descriptor_name":"Cartilage Oligomeric Matrix Protein","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":true},{"descriptor_ui":"D064236","descriptor_name":"Cartilage Oligomeric Matrix Protein","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":true},{"descriptor_ui":"D064236","descriptor_name":"Cartilage Oligomeric Matrix Protein","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":true},{"descriptor_ui":"D064236","descriptor_name":"Cartilage Oligomeric Matrix Protein","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":true}],"locations_count":3,"locations":[{"id":"doi:10.3389/fendo.2026.1740770","doi":"https://doi.org/10.3389/fendo.2026.1740770","is_oa":true,"landing_page_url":"https://doi.org/10.3389/fendo.2026.1740770","pdf_url":"https://public-pages-files-2025.frontiersin.org/journals/endocrinology/articles/10.3389/fendo.2026.1740770/pdf","source":{"id":"https://openalex.org/S2597401208","display_name":"Frontiers in Endocrinology","issn_l":"1664-2392","issn":["1664-2392"],"is_oa":true,"is_in_doaj":true,"is_core":true,"listed_in":["cwts-core","doaj","ki-jl-1","medline","norway-1"],"host_organization":"https://openalex.org/P4310320527","host_organization_name":"Frontiers Media","host_organization_lineage":["https://openalex.org/P4310320527"],"host_organization_lineage_names":["Frontiers Media"],"type":"journal"},"license":"cc-by","license_id":"https://openalex.org/licenses/cc-by","version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"Frontiers in Endocrinology","raw_type":"journal-article"},{"id":"pmid:41798190","doi":null,"is_oa":false,"landing_page_url":"https://pubmed.ncbi.nlm.nih.gov/41798190","pdf_url":null,"source":{"id":"https://openalex.org/S4306525036","display_name":"PubMed","issn_l":null,"issn":null,"is_oa":false,"is_in_doaj":false,"is_core":false,"listed_in":[],"host_organization":"https://openalex.org/I1299303238","host_organization_name":"National Institutes of Health","host_organization_lineage":["https://openalex.org/I1299303238"],"host_organization_lineage_names":[],"type":"repository"},"license":null,"license_id":null,"version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"Frontiers in endocrinology","raw_type":"Journal Article"},{"id":"pmh:oai:pubmedcentral.nih.gov:12960193","doi":null,"is_oa":true,"landing_page_url":"https://pmc.ncbi.nlm.nih.gov/articles/PMC12960193/","pdf_url":"https://pmc.ncbi.nlm.nih.gov/articles/PMC12960193/pdf/fendo-17-1740770.pdf","source":{"id":"https://openalex.org/S2764455111","display_name":"PubMed Central","issn_l":null,"issn":null,"is_oa":true,"is_in_doaj":false,"is_core":false,"listed_in":[],"host_organization":"https://openalex.org/I1299303238","host_organization_name":"National Institutes of Health","host_organization_lineage":["https://openalex.org/I1299303238"],"host_organization_lineage_names":[],"type":"repository"},"license":"cc-by","license_id":"https://openalex.org/licenses/cc-by","version":"submittedVersion","is_accepted":false,"is_published":false,"raw_source_name":"Front Endocrinol (Lausanne)","raw_type":"Text"}],"best_oa_location":{"id":"doi:10.3389/fendo.2026.1740770","doi":"https://doi.org/10.3389/fendo.2026.1740770","is_oa":true,"landing_page_url":"https://doi.org/10.3389/fendo.2026.1740770","pdf_url":"https://public-pages-files-2025.frontiersin.org/journals/endocrinology/articles/10.3389/fendo.2026.1740770/pdf","source":{"id":"https://openalex.org/S2597401208","display_name":"Frontiers in Endocrinology","issn_l":"1664-2392","issn":["1664-2392"],"is_oa":true,"is_in_doaj":true,"is_core":true,"listed_in":["cwts-core","doaj","ki-jl-1","medline","norway-1"],"host_organization":"https://openalex.org/P4310320527","host_organization_name":"Frontiers Media","host_organization_lineage":["https://openalex.org/P4310320527"],"host_organization_lineage_names":["Frontiers Media"],"type":"journal"},"license":"cc-by","license_id":"https://openalex.org/licenses/cc-by","version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"Frontiers in Endocrinology","raw_type":"journal-article"},"sustainable_development_goals":[{"id":"https://metadata.un.org/sdg/3","score":0.9537000060081482,"display_name":"Good health and well-being"}],"sustainable_development_goals_aurora":[{"id":"https://metadata.un.org/sdg/9","score":0.6352980732917786,"display_name":"Industry, innovation and infrastructure"}],"study_designs":[],"awards":[],"funders":[],"has_content":{"grobid_xml":true,"pdf":true},"content_urls":{"pdf":"https://content.openalex.org/works/W7130516261.pdf","grobid_xml":"https://content.openalex.org/works/W7130516261.grobid-xml"},"referenced_works_count":23,"referenced_works":["https://openalex.org/W1964485007","https://openalex.org/W1967366879","https://openalex.org/W1968639212","https://openalex.org/W1985033150","https://openalex.org/W2005259839","https://openalex.org/W2014827364","https://openalex.org/W2016690689","https://openalex.org/W2019856209","https://openalex.org/W2080446840","https://openalex.org/W2087938887","https://openalex.org/W2098200345","https://openalex.org/W2131587303","https://openalex.org/W2165001900","https://openalex.org/W2168605753","https://openalex.org/W2304371511","https://openalex.org/W2575292626","https://openalex.org/W2733622661","https://openalex.org/W2793146419","https://openalex.org/W2801728861","https://openalex.org/W2904189794","https://openalex.org/W3042765409","https://openalex.org/W4361274335","https://openalex.org/W4403080159"],"related_works":[],"abstract_inverted_index":{"Background":[0],"Pseudoachondroplasia":[1],"(PSACH)":[2],"and":[3,46,66,73,93,101,140,204,221,233,249,316],"multiple":[4],"epiphyseal":[5],"dysplasia-1":[6],"(EDM1)":[7],"are":[8,295],"two":[9],"rare":[10],"skeletal":[11],"diseases":[12],"that":[13],"represent":[14],"distinct":[15],"endpoints":[16],"of":[17,44,48,76,81,96,110,119,171,185,201,214,259,268],"a":[18,256,319],"continuous":[19],"phenotypic":[20,291],"spectrum":[21],"with":[22,78,127,155,165,255,290,299,322],"substantial":[23],"clinical":[24,42,91],"overlap,":[25],"caused":[26],"by":[27],"variants":[28,47,95,118,129,230,270,294,313],"in":[29,231,247,273,308,314],"the":[30,41,56,84,132,150,159,202,302],"gene":[31,94,121],"coding":[32],"cartilage":[33],"oligomeric":[34],"matrix":[35],"protein":[36],"(COMP).":[37],"Objectives":[38],"To":[39],"summarize":[40],"characteristics":[43,92],"PSACH/EDM1":[45,82,112],"COMP":[49,120],"gene,":[50],"as":[51,53,275,301],"well":[52],"to":[54,86,103,238,251,265],"explore":[55,104],"correlations":[57],"between":[58],"them.":[59],"Methods":[60],"PubMed,":[61],"China":[62],"National":[63],"Knowledge":[64],"Infrastructure,":[65],"Wanfang":[67],"were":[68,99,122,149,235,253,271],"searched":[69],"for":[70,131],"case":[71,74],"reports":[72],"series":[75],"patients":[77,98,113],"genetic":[79],"diagnosis":[80],"from":[83,124],"inception":[85],"24":[87],"March":[88],"2025.":[89],"The":[90],"enrolled":[97,123],"analyzed":[100],"compared":[102],"genotype-phenotype":[105],"correlation.":[106],"Results":[107],"A":[108],"total":[109],"830":[111],"(471probands)":[114],"harboring":[115],"224":[116],"different":[117],"106":[125],"articles,":[126],"missense":[128,312],"accounting":[130],"majority":[133],"(80.8%).":[134],"Exon":[135],"13":[136],"(183":[137],"probands,":[138,147],"38.9%)":[139],"type":[141],"III":[142],"(T3)":[143],"repeat":[144],"domain":[145],"(413":[146],"87.7%)":[148],"most":[151,160],"commonly":[152],"affected":[153],"regions,":[154],"c.1417_1419del":[156,276],"(p.Asp473del)":[157,277],"being":[158,278],"common":[161],"hotspot":[162,303],"variant.":[163],"Compared":[164],"EDM1,":[166,288],"PSACH":[167,260,279,282],"manifested":[168],"earlier":[169],"age":[170],"onset":[172],"(":[173,179,189,195,207,217,225,261],"p":[174,180,190,196,208,218,226,242,262],"<":[175,181,191,209,219,243],"0.001),":[176,182,192,210,244],"shorter":[177],"stature":[178],"higher":[183],"rates":[184],"lower":[186,212],"limb":[187],"deformity":[188],"joint":[193,215],"laxity":[194],"=":[197,227,263],"0.041),":[198],"anterior":[199],"beaking":[200],"vertebra":[203],"irregular/flared":[205],"metaphysis":[206],"while":[211,245],"rate":[213],"pain/osteoarthritis":[216],"0.001)":[220],"abnormal":[222],"femoral":[223],"head":[224],"0.008).":[228],"Missense":[229],"T3\u20134":[232,315],"T3\u20135":[234,317],"more":[236,284,296],"likely":[237],"cause":[239],"EDM1":[240],"(all":[241],"those":[246],"T3\u20131":[248],"T3\u20136":[250],"T3\u20138":[252],"associated":[254,298],"greater":[257],"frequency":[258],"0.002":[264],"0.023).":[266],"Majority":[267],"in-frame":[269],"found":[272],"PSACH,":[274,300],"specific.":[280],"Conclusions":[281],"exhibits":[283],"severe":[285],"phenotypes":[286],"than":[287],"even":[289],"overlap.":[292],"In-frame":[293],"strongly":[297],"variant":[304],"p.Asp473del":[305],"exclusively":[306],"identified":[307],"PSACH.":[309],"In":[310],"contrast,":[311],"show":[318],"stronger":[320],"association":[321],"EDM1.":[323]},"counts_by_year":[],"updated_date":"2026-09-29T14:09:16.559479","created_date":"2026-02-19T00:00:00"}