{"id":"https://openalex.org/W2000533376","doi":"https://doi.org/10.1002/ajmg.a.30785","title":"Clinical and molecular characterization of two adults with autosomal recessive Robinow syndrome","display_name":"Clinical and molecular characterization of two adults with autosomal recessive Robinow syndrome","publication_year":2005,"publication_date":"2005-06-10","ids":{"openalex":"https://openalex.org/W2000533376","doi":"https://doi.org/10.1002/ajmg.a.30785","mag":"2000533376","pmid":"https://pubmed.ncbi.nlm.nih.gov/15952209"},"language":"en","primary_location":{"id":"doi:10.1002/ajmg.a.30785","doi":"https://doi.org/10.1002/ajmg.a.30785","is_oa":false,"landing_page_url":"https://doi.org/10.1002/ajmg.a.30785","pdf_url":null,"source":{"id":"https://openalex.org/S180901878","display_name":"American Journal of Medical Genetics Part A","issn_l":"1552-4825","issn":["1552-4825","1552-4833"],"is_oa":false,"is_in_doaj":false,"is_core":true,"listed_in":["anvur-scientific","cwts-core","dongbi-b","doyens","jufo-1","ki-jl-1","medline","norway-1","poland-100","russia-white-list-3","vabb-shw"],"host_organization":"https://openalex.org/P4310320595","host_organization_name":"Wiley","host_organization_lineage":["https://openalex.org/P4310320595"],"host_organization_lineage_names":["Wiley"],"type":"journal"},"license":null,"license_id":null,"version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"American Journal of Medical Genetics Part A","raw_type":"journal-article"},"volume":null,"type":"article","indexed_in":["crossref","pubmed"],"open_access":{"is_oa":false,"oa_status":"closed","oa_url":null,"any_repository_has_fulltext":false},"authorships":[{"author_position":"first","author":{"id":"https://openalex.org/A5062691806","display_name":"Fatih Tufan","orcid":"https://orcid.org/0000-0003-3245-1618","observed_orcids":["https://orcid.org/0000-0003-3245-1618"]},"institutions":[{"id":"https://openalex.org/I67581229","display_name":"Istanbul University","ror":"https://ror.org/03a5qrr21","country_code":"TR","type":"education","lineage":["https://openalex.org/I67581229"]}],"countries":["TR"],"is_corresponding":false,"raw_author_name":"Fatih Tufan","raw_affiliation_strings":["Department of Internal Medicine, Istanbul University, Istanbul Medical Faculty, Capa, Turkey"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Internal Medicine, Istanbul University, Istanbul Medical Faculty, Capa, Turkey","institution_ids":["https://openalex.org/I67581229"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5024872504","display_name":"K\u0131van\u00e7 \u00c7efle","orcid":"https://orcid.org/0000-0002-9420-4543","observed_orcids":["https://orcid.org/0000-0002-9420-4543"]},"institutions":[{"id":"https://openalex.org/I67581229","display_name":"Istanbul University","ror":"https://ror.org/03a5qrr21","country_code":"TR","type":"education","lineage":["https://openalex.org/I67581229"]}],"countries":["TR"],"is_corresponding":false,"raw_author_name":"Kivanc Cefle","raw_affiliation_strings":["Department of Internal Medicine, Istanbul University, Istanbul Medical Faculty, Division of Medical Genetics, Capa, Istanbul, Turkey"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Internal Medicine, Istanbul University, Istanbul Medical Faculty, Division of Medical Genetics, Capa, Istanbul, Turkey","institution_ids":["https://openalex.org/I67581229"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5013478491","display_name":"Seval T\u00fcrkmen","orcid":"https://orcid.org/0000-0002-4016-4777","observed_orcids":["https://orcid.org/0000-0002-4016-4777"]},"institutions":[{"id":"https://openalex.org/I39343248","display_name":"Humboldt-Universit\u00e4t zu Berlin","ror":"https://ror.org/01hcx6992","country_code":"DE","type":"education","lineage":["https://openalex.org/I39343248"]},{"id":"https://openalex.org/I7877124","display_name":"Charit\u00e9 - Universit\u00e4tsmedizin Berlin","ror":"https://ror.org/001w7jn25","country_code":"DE","type":"healthcare","lineage":["https://openalex.org/I7877124"]}],"countries":["DE"],"is_corresponding":false,"raw_author_name":"Seval T\u00fcrkmen","raw_affiliation_strings":["Humboldt University, Charite\u0301, Institute of Medical Genetics, Berlin, Germany","Humboldt University, Charit\u00e9, Institute of Medical Genetics, Berlin, Germany"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Humboldt University, Charite\u0301, Institute of Medical Genetics, Berlin, Germany","institution_ids":["https://openalex.org/I39343248","https://openalex.org/I7877124"]},{"raw_affiliation_string":"Humboldt University, Charit\u00e9, Institute of Medical Genetics, Berlin, Germany","institution_ids":["https://openalex.org/I39343248","https://openalex.org/I7877124"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5016489026","display_name":"Ayd\u0131n T\u00fcrkmen","orcid":"https://orcid.org/0000-0003-3664-8469","observed_orcids":["https://orcid.org/0000-0003-3664-8469"]},"institutions":[{"id":"https://openalex.org/I67581229","display_name":"Istanbul University","ror":"https://ror.org/03a5qrr21","country_code":"TR","type":"education","lineage":["https://openalex.org/I67581229"]}],"countries":["TR"],"is_corresponding":false,"raw_author_name":"Aydin T\u00fcrkmen","raw_affiliation_strings":["Department of Internal Medicine, Istanbul University, Istanbul Medical Faculty, Division of Nephrology, Capa, Istanbul, Turkey"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Internal Medicine, Istanbul University, Istanbul Medical Faculty, Division of Nephrology, Capa, Istanbul, Turkey","institution_ids":["https://openalex.org/I67581229"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5029165198","display_name":"Unal Zorba","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I67581229","display_name":"Istanbul University","ror":"https://ror.org/03a5qrr21","country_code":"TR","type":"education","lineage":["https://openalex.org/I67581229"]}],"countries":["TR"],"is_corresponding":false,"raw_author_name":"Unal Zorba","raw_affiliation_strings":["Department of Urology, Istanbul University, Istanbul Medical Faculty, Capa, Istanbul, Turkey"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Urology, Istanbul University, Istanbul Medical Faculty, Capa, Istanbul, Turkey","institution_ids":["https://openalex.org/I67581229"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5051422321","display_name":"Memduh Dursun","orcid":"https://orcid.org/0000-0001-9244-3949","observed_orcids":["https://orcid.org/0000-0001-9244-3949"]},"institutions":[{"id":"https://openalex.org/I67581229","display_name":"Istanbul University","ror":"https://ror.org/03a5qrr21","country_code":"TR","type":"education","lineage":["https://openalex.org/I67581229"]}],"countries":["TR"],"is_corresponding":false,"raw_author_name":"Memduh Dursun","raw_affiliation_strings":["Department of Radiology, Istanbul University, Istanbul Medical Faculty, Capa, Istanbul, Turkey"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Radiology, Istanbul University, Istanbul Medical Faculty, Capa, Istanbul, Turkey","institution_ids":["https://openalex.org/I67581229"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5042666128","display_name":"\u015e\u00fckr\u00fc \u00d6zt\u00fcrk","orcid":"https://orcid.org/0000-0002-8809-7462","observed_orcids":["https://orcid.org/0000-0002-8809-7462"]},"institutions":[{"id":"https://openalex.org/I67581229","display_name":"Istanbul University","ror":"https://ror.org/03a5qrr21","country_code":"TR","type":"education","lineage":["https://openalex.org/I67581229"]}],"countries":["TR"],"is_corresponding":false,"raw_author_name":"S\u00fckr\u00fc Ozt\u00fcrk","raw_affiliation_strings":["Department of Internal Medicine, Istanbul University, Istanbul Medical Faculty, Division of Medical Genetics, Capa, Istanbul, Turkey"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Internal Medicine, Istanbul University, Istanbul Medical Faculty, Division of Medical Genetics, Capa, Istanbul, Turkey","institution_ids":["https://openalex.org/I67581229"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5087129506","display_name":"\u015e\u00fckr\u00fc Palanduz","orcid":"https://orcid.org/0000-0002-9435-009X","observed_orcids":["https://orcid.org/0000-0002-9435-009X"]},"institutions":[{"id":"https://openalex.org/I67581229","display_name":"Istanbul University","ror":"https://ror.org/03a5qrr21","country_code":"TR","type":"education","lineage":["https://openalex.org/I67581229"]}],"countries":["TR"],"is_corresponding":false,"raw_author_name":"S\u00fckr\u00fc Paland\u00fcz","raw_affiliation_strings":["Department of Internal Medicine, Istanbul University, Istanbul Medical Faculty, Division of Medical Genetics, Capa, Istanbul, Turkey"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Internal Medicine, Istanbul University, Istanbul Medical Faculty, Division of Medical Genetics, Capa, Istanbul, Turkey","institution_ids":["https://openalex.org/I67581229"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5040623117","display_name":"Tevfik Ecder","orcid":"https://orcid.org/0000-0003-3394-5775","observed_orcids":["https://orcid.org/0000-0003-3394-5775"]},"institutions":[{"id":"https://openalex.org/I67581229","display_name":"Istanbul University","ror":"https://ror.org/03a5qrr21","country_code":"TR","type":"education","lineage":["https://openalex.org/I67581229"]}],"countries":["TR"],"is_corresponding":false,"raw_author_name":"Tevfik Ecder","raw_affiliation_strings":["Department of Internal Medicine, Istanbul University, Istanbul Medical Faculty, Division of Nephrology, Capa, Istanbul, Turkey"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Internal Medicine, Istanbul University, Istanbul Medical Faculty, Division of Nephrology, Capa, Istanbul, Turkey","institution_ids":["https://openalex.org/I67581229"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5023743496","display_name":"Stefan Mundlos","orcid":"https://orcid.org/0000-0002-9788-3166","observed_orcids":["https://orcid.org/0000-0002-9788-3166","https://orcid.org/0000-0001-7824-1945"]},"institutions":[{"id":"https://openalex.org/I39343248","display_name":"Humboldt-Universit\u00e4t zu Berlin","ror":"https://ror.org/01hcx6992","country_code":"DE","type":"education","lineage":["https://openalex.org/I39343248"]},{"id":"https://openalex.org/I7877124","display_name":"Charit\u00e9 - Universit\u00e4tsmedizin Berlin","ror":"https://ror.org/001w7jn25","country_code":"DE","type":"healthcare","lineage":["https://openalex.org/I7877124"]}],"countries":["DE"],"is_corresponding":false,"raw_author_name":"Stefan Mundlos","raw_affiliation_strings":["Humboldt University, Charite\u0301, Institute of Medical Genetics, Berlin, Germany","Humboldt University, Charit\u00e9, Institute of Medical Genetics, Berlin, Germany"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Humboldt University, Charite\u0301, Institute of Medical Genetics, Berlin, Germany","institution_ids":["https://openalex.org/I39343248","https://openalex.org/I7877124"]},{"raw_affiliation_string":"Humboldt University, Charit\u00e9, Institute of Medical Genetics, Berlin, Germany","institution_ids":["https://openalex.org/I39343248","https://openalex.org/I7877124"]}]},{"author_position":"last","author":{"id":"https://openalex.org/A5049735533","display_name":"Denise Horn","orcid":"https://orcid.org/0000-0003-0870-8911","observed_orcids":["https://orcid.org/0000-0003-0870-8911"]},"institutions":[{"id":"https://openalex.org/I39343248","display_name":"Humboldt-Universit\u00e4t zu Berlin","ror":"https://ror.org/01hcx6992","country_code":"DE","type":"education","lineage":["https://openalex.org/I39343248"]},{"id":"https://openalex.org/I7877124","display_name":"Charit\u00e9 - Universit\u00e4tsmedizin Berlin","ror":"https://ror.org/001w7jn25","country_code":"DE","type":"healthcare","lineage":["https://openalex.org/I7877124"]}],"countries":["DE"],"is_corresponding":true,"raw_author_name":"Denise Horn","raw_affiliation_strings":["Humboldt University, Charite\u0301, Institute of Medical Genetics, Berlin, Germany","Institut f\u00fcr Medizinische Genetik, Humboldt\u2010Universit\u00e4t, Charit\u00e9, Augustenburger Platz 1 13353, Berlin, Germany"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Humboldt University, Charite\u0301, Institute of Medical Genetics, Berlin, Germany","institution_ids":["https://openalex.org/I39343248","https://openalex.org/I7877124"]},{"raw_affiliation_string":"Institut f\u00fcr Medizinische Genetik, Humboldt\u2010Universit\u00e4t, Charit\u00e9, Augustenburger Platz 1 13353, Berlin, Germany","institution_ids":["https://openalex.org/I39343248","https://openalex.org/I7877124"]}]}],"institutions":[],"countries_distinct_count":2,"institutions_distinct_count":3,"corresponding_author_ids":["https://openalex.org/A5049735533"],"corresponding_institution_ids":["https://openalex.org/I39343248","https://openalex.org/I7877124"],"apc_list":{"value":4710,"currency":"USD","value_usd":4710},"apc_paid":null,"fwci":0.7295,"has_fulltext":false,"cited_by_count":36,"citation_normalized_percentile":{"value":0.64219235,"is_in_top_1_percent":false,"is_in_top_10_percent":false},"cited_by_percentile_year":{"min":89,"max":98},"biblio":{"volume":"136A","issue":"2","first_page":"185","last_page":"189"},"is_retracted":false,"is_paratext":false,"is_xpac":false,"primary_topic":{"id":"https://openalex.org/T13107","display_name":"Congenital limb and hand anomalies","score":0.5145999789237976,"subfield":{"id":"https://openalex.org/subfields/1309","display_name":"Developmental Biology"},"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/T13107","display_name":"Congenital limb and hand anomalies","score":0.5145999789237976,"subfield":{"id":"https://openalex.org/subfields/1309","display_name":"Developmental Biology"},"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/T11642","display_name":"Genomics and Rare Diseases","score":0.29739999771118164,"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/T11310","display_name":"Connective tissue disorders research","score":0.11299999803304672,"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/compound-heterozygosity","display_name":"compound heterozygosity","score":0.8379999995231628},{"id":"https://openalex.org/keywords/brachydactyly","display_name":"brachydactyly","score":0.9819999933242798},{"id":"https://openalex.org/keywords/vertebral-anomalies","display_name":"vertebral anomalies","score":0.8149999976158142},{"id":"https://openalex.org/keywords/hydronephrosis","display_name":"hydronephrosis","score":0.9210000038146973},{"id":"https://openalex.org/keywords/nephrocalcinosis","display_name":"nephrocalcinosis","score":0.9940000176429749},{"id":"https://openalex.org/keywords/kidney-failure","display_name":"renal failure","score":0.984000027179718},{"id":"https://openalex.org/keywords/spinal-involvement","display_name":"spinal involvement","score":0.7639999985694885},{"id":"https://openalex.org/keywords/short-stature","display_name":"short stature","score":0.7429999709129333},{"id":"https://openalex.org/keywords/adult-phenotype","display_name":"adult phenotype","score":0.5090000033378601}],"concepts":[{"id":"https://openalex.org/C2777871287","wikidata":"https://www.wikidata.org/wiki/Q7502090","display_name":"Short stature","level":2,"score":0.8178155422210693},{"id":"https://openalex.org/C2781133459","wikidata":"https://www.wikidata.org/wiki/Q896643","display_name":"Brachydactyly","level":3,"score":0.8094580173492432},{"id":"https://openalex.org/C71924100","wikidata":"https://www.wikidata.org/wiki/Q11190","display_name":"Medicine","level":0,"score":0.6656283736228943},{"id":"https://openalex.org/C2778111144","wikidata":"https://www.wikidata.org/wiki/Q194101","display_name":"Dwarfism","level":3,"score":0.6098954081535339},{"id":"https://openalex.org/C2779778371","wikidata":"https://www.wikidata.org/wiki/Q727096","display_name":"Congenital disorder","level":2,"score":0.45280858874320984},{"id":"https://openalex.org/C143589142","wikidata":"https://www.wikidata.org/wiki/Q2617554","display_name":"Loss of heterozygosity","level":4,"score":0.4399748146533966},{"id":"https://openalex.org/C12125453","wikidata":"https://www.wikidata.org/wiki/Q5156837","display_name":"Compound heterozygosity","level":4,"score":0.4361027479171753},{"id":"https://openalex.org/C134018914","wikidata":"https://www.wikidata.org/wiki/Q162606","display_name":"Endocrinology","level":1,"score":0.43568509817123413},{"id":"https://openalex.org/C126322002","wikidata":"https://www.wikidata.org/wiki/Q11180","display_name":"Internal medicine","level":1,"score":0.4166221022605896},{"id":"https://openalex.org/C127716648","wikidata":"https://www.wikidata.org/wiki/Q104053","display_name":"Phenotype","level":3,"score":0.32142341136932373},{"id":"https://openalex.org/C54355233","wikidata":"https://www.wikidata.org/wiki/Q7162","display_name":"Genetics","level":1,"score":0.27085089683532715},{"id":"https://openalex.org/C86803240","wikidata":"https://www.wikidata.org/wiki/Q420","display_name":"Biology","level":0,"score":0.19375434517860413},{"id":"https://openalex.org/C141071460","wikidata":"https://www.wikidata.org/wiki/Q40821","display_name":"Surgery","level":1,"score":0.1784268319606781},{"id":"https://openalex.org/C104317684","wikidata":"https://www.wikidata.org/wiki/Q7187","display_name":"Gene","level":2,"score":0.15586906671524048},{"id":"https://openalex.org/C180754005","wikidata":"https://www.wikidata.org/wiki/Q80726","display_name":"Allele","level":3,"score":0.10627329349517822}],"mesh":[{"descriptor_ui":"D000015","descriptor_name":"Abnormalities, Multiple","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":false},{"descriptor_ui":"D000015","descriptor_name":"Abnormalities, Multiple","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":false},{"descriptor_ui":"D000015","descriptor_name":"Abnormalities, Multiple","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":false},{"descriptor_ui":"D000015","descriptor_name":"Abnormalities, Multiple","qualifier_ui":"Q000473","qualifier_name":"pathology","is_major_topic":false},{"descriptor_ui":"D000015","descriptor_name":"Abnormalities, Multiple","qualifier_ui":"Q000473","qualifier_name":"pathology","is_major_topic":false},{"descriptor_ui":"D000015","descriptor_name":"Abnormalities, Multiple","qualifier_ui":"Q000473","qualifier_name":"pathology","is_major_topic":false},{"descriptor_ui":"D000328","descriptor_name":"Adult","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D000328","descriptor_name":"Adult","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D000328","descriptor_name":"Adult","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D001483","descriptor_name":"Base Sequence","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D001483","descriptor_name":"Base Sequence","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D001483","descriptor_name":"Base Sequence","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D004247","descriptor_name":"DNA","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":false},{"descriptor_ui":"D004247","descriptor_name":"DNA","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":false},{"descriptor_ui":"D004247","descriptor_name":"DNA","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":false},{"descriptor_ui":"D004247","descriptor_name":"DNA","qualifier_ui":"Q000737","qualifier_name":"chemistry","is_major_topic":false},{"descriptor_ui":"D004247","descriptor_name":"DNA","qualifier_ui":"Q000737","qualifier_name":"chemistry","is_major_topic":false},{"descriptor_ui":"D004247","descriptor_name":"DNA","qualifier_ui":"Q000737","qualifier_name":"chemistry","is_major_topic":false},{"descriptor_ui":"D004252","descriptor_name":"DNA Mutational Analysis","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D004252","descriptor_name":"DNA Mutational Analysis","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D004252","descriptor_name":"DNA Mutational Analysis","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D005808","descriptor_name":"Genes, Recessive","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":false},{"descriptor_ui":"D005808","descriptor_name":"Genes, Recessive","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":false},{"descriptor_ui":"D005808","descriptor_name":"Genes, Recessive","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":false},{"descriptor_ui":"D006130","descriptor_name":"Growth Disorders","qualifier_ui":"Q000473","qualifier_name":"pathology","is_major_topic":false},{"descriptor_ui":"D006130","descriptor_name":"Growth Disorders","qualifier_ui":"Q000473","qualifier_name":"pathology","is_major_topic":false},{"descriptor_ui":"D006130","descriptor_name":"Growth Disorders","qualifier_ui":"Q000473","qualifier_name":"pathology","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":"D009154","descriptor_name":"Mutation","qualifier_ui":null,"qualifier_name":null,"is_major_topic":true},{"descriptor_ui":"D009154","descriptor_name":"Mutation","qualifier_ui":null,"qualifier_name":null,"is_major_topic":true},{"descriptor_ui":"D009154","descriptor_name":"Mutation","qualifier_ui":null,"qualifier_name":null,"is_major_topic":true},{"descriptor_ui":"D011956","descriptor_name":"Receptors, Cell Surface","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":false},{"descriptor_ui":"D011956","descriptor_name":"Receptors, Cell Surface","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":false},{"descriptor_ui":"D011956","descriptor_name":"Receptors, Cell Surface","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":false},{"descriptor_ui":"D013577","descriptor_name":"Syndrome","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D013577","descriptor_name":"Syndrome","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D013577","descriptor_name":"Syndrome","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D017880","descriptor_name":"Limb Deformities, Congenital","qualifier_ui":"Q000473","qualifier_name":"pathology","is_major_topic":false},{"descriptor_ui":"D017880","descriptor_name":"Limb Deformities, Congenital","qualifier_ui":"Q000473","qualifier_name":"pathology","is_major_topic":false},{"descriptor_ui":"D017880","descriptor_name":"Limb Deformities, Congenital","qualifier_ui":"Q000473","qualifier_name":"pathology","is_major_topic":false},{"descriptor_ui":"D019465","descriptor_name":"Craniofacial Abnormalities","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D019465","descriptor_name":"Craniofacial Abnormalities","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D019465","descriptor_name":"Craniofacial Abnormalities","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D057050","descriptor_name":"Receptor Tyrosine Kinase-like Orphan Receptors","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D057050","descriptor_name":"Receptor Tyrosine Kinase-like Orphan Receptors","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D057050","descriptor_name":"Receptor Tyrosine Kinase-like Orphan Receptors","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false}],"locations_count":2,"locations":[{"id":"doi:10.1002/ajmg.a.30785","doi":"https://doi.org/10.1002/ajmg.a.30785","is_oa":false,"landing_page_url":"https://doi.org/10.1002/ajmg.a.30785","pdf_url":null,"source":{"id":"https://openalex.org/S180901878","display_name":"American Journal of Medical Genetics Part A","issn_l":"1552-4825","issn":["1552-4825","1552-4833"],"is_oa":false,"is_in_doaj":false,"is_core":true,"listed_in":["anvur-scientific","cwts-core","dongbi-b","doyens","jufo-1","ki-jl-1","medline","norway-1","poland-100","russia-white-list-3","vabb-shw"],"host_organization":"https://openalex.org/P4310320595","host_organization_name":"Wiley","host_organization_lineage":["https://openalex.org/P4310320595"],"host_organization_lineage_names":["Wiley"],"type":"journal"},"license":null,"license_id":null,"version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"American Journal of Medical Genetics Part A","raw_type":"journal-article"},{"id":"pmid:15952209","doi":null,"is_oa":false,"landing_page_url":"https://pubmed.ncbi.nlm.nih.gov/15952209","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":"American journal of medical genetics. Part A","raw_type":"Case Reports"}],"best_oa_location":null,"sustainable_development_goals":[{"display_name":"Good health and well-being","id":"https://metadata.un.org/sdg/3","score":0.9763000011444092}],"sustainable_development_goals_aurora":[{"display_name":"Good health and well-being","id":"https://metadata.un.org/sdg/3","score":0.7900000214576721}],"study_designs":[{"display_name":"Case Report","id":"https://openalex.org/study-designs/case-report"}],"awards":[],"funders":[],"has_content":{"grobid_xml":false,"pdf":false},"content_urls":null,"referenced_works_count":11,"referenced_works":["https://openalex.org/W1485743594","https://openalex.org/W1516032812","https://openalex.org/W1966414415","https://openalex.org/W1972457974","https://openalex.org/W1974032064","https://openalex.org/W1999231968","https://openalex.org/W2015533596","https://openalex.org/W2078143938","https://openalex.org/W2080520227","https://openalex.org/W2120854994","https://openalex.org/W4232225448"],"related_works":["https://openalex.org/W4390086085","https://openalex.org/W2102441300","https://openalex.org/W2076641461","https://openalex.org/W4244210626","https://openalex.org/W2041397031","https://openalex.org/W2014390077","https://openalex.org/W2021720074","https://openalex.org/W2026612637","https://openalex.org/W2006323421","https://openalex.org/W2061996448"],"abstract_inverted_index":{"Autosomal":[0],"recessive":[1],"Robinow":[2],"syndrome":[3],"is":[4,11],"caused":[5],"by":[6,13],"mutations":[7],"in":[8,77,94,110],"ROR2":[9,87],"and":[10,22,32,44,52,66,97,105],"characterized":[12],"short":[14],"stature,":[15],"mesomelic":[16],"limb":[17],"shortening,":[18],"brachydactyly,":[19],"vertebral":[20],"abnormalities,":[21],"a":[23,90],"characteristic":[24,59],"\"fetal":[25],"face\"":[26],"dysmorphology.":[27],"We":[28],"report":[29],"the":[30,86],"clinical":[31],"molecular":[33],"studies":[34],"on":[35],"two":[36],"adults":[37],"with":[38],"this":[39],"condition.":[40],"Besides":[41],"typical":[42],"skeletal":[43,60],"facial":[45,75],"features,":[46],"one":[47],"patient":[48,57],"developed":[49],"hydronephrosis,":[50],"nephrocalcinosis,":[51],"renal":[53],"failure.":[54],"The":[55,74],"second":[56],"had":[58],"manifestations":[61],"including":[62,70],"severe":[63],"spinal":[64],"involvement":[65],"showed":[67],"endocrinological":[68],"abnormalities":[69],"elevated":[71],"gonadotropic":[72],"hormones.":[73],"phenotype":[76],"both":[78],"patients":[79],"remained":[80],"distinctive":[81],"into":[82],"adulthood.":[83],"Analysis":[84],"of":[85],"gene":[88],"revealed":[89],"homozygous":[91],"c.1937_1943delACAAGCT":[92],"mutation":[93],"Patient":[95,111],"1,":[96],"compound":[98],"heterozygosity":[99],"for":[100],"c.355C":[101],">":[102,107],"T":[103,108],"(p.R119X).":[104],"c.550C":[106],"(p.R184C)":[109],"2.":[112]},"counts_by_year":[{"year":2024,"cited_by_count":3},{"year":2022,"cited_by_count":4},{"year":2021,"cited_by_count":3},{"year":2020,"cited_by_count":3},{"year":2019,"cited_by_count":3},{"year":2017,"cited_by_count":1},{"year":2016,"cited_by_count":1},{"year":2015,"cited_by_count":4},{"year":2014,"cited_by_count":3},{"year":2013,"cited_by_count":1},{"year":2012,"cited_by_count":1}],"updated_date":"2026-10-16T09:59:22.235173","created_date":"2025-10-10T00:00:00"}
