{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,1,5]],"date-time":"2026-01-05T17:40:47Z","timestamp":1767634847174,"version":"3.48.0"},"reference-count":11,"publisher":"Wiley","issue":"2","license":[{"start":{"date-parts":[[2025,9,26]],"date-time":"2025-09-26T00:00:00Z","timestamp":1758844800000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["American J of Med Genetics Pt A"],"published-print":{"date-parts":[[2026,2]]},"abstract":"ABSTRACT<\/jats:title>\n \n CYP26B1<\/jats:italic>\n , a member of the cytochrome P450 enzyme family, is one of the enzymes responsible for the inactivation of retinoic acid. Pathogenic variants in genes involved in endogenous retinoic acid production and control can result in craniofacial disorders and extremity abnormalities. The patient was referred due to craniosynostosis and dysmorphic appearance at the age of 3\u2009years. Clinical exome sequencing showed a likely pathogenic homozygous missense variant, c.1190G>A (p.Arg397Gln), in exon 5 of the\n CYP26B1<\/jats:italic>\n gene. Nine cases with craniosynostosis, various skeletal deformities, arachnodactyly, and encephalocele have been reported in the literature so far, caused by biallelic pathogenic variants in the\n CYP26B1<\/jats:italic>\n . All patients had a fusion of various bones in the upper extremity, in addition to premature closure of the skull sutures. Although our patient had craniosynostosis, there was no additional obvious joint synostosis. Herein, we describe a case of an extremely rare skeletal disorder caused by a pathogenic variant in\n CYP26B1<\/jats:italic>\n . We broaden the phenotypic spectrum and underscore that extremity joint fusions are not a universal finding of the disease.\n <\/jats:p>","DOI":"10.1002\/ajmg.a.64257","type":"journal-article","created":{"date-parts":[[2025,9,26]],"date-time":"2025-09-26T08:00:38Z","timestamp":1758873638000},"page":"490-495","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":0,"title":["A Rare Craniosynostosis Phenotype Associated With a Homozygous\n \n CYP26B1<\/i>\n <\/scp>\n Pathogenic Variant in the Absence of Extremity Synostosis"],"prefix":"10.1002","volume":"200","author":[{"given":"Busra Ozguc","family":"Caliskan","sequence":"first","affiliation":[{"name":"Faculty of Medicine, Department of Medical Genetics Erciyes University Kayseri Turkey"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Mikail","family":"Demir","sequence":"additional","affiliation":[{"name":"Faculty of Medicine, Department of Medical Genetics Erciyes University Kayseri Turkey"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Suat","family":"Oktem","sequence":"additional","affiliation":[{"name":"Faculty of Medicine, Department of Neurosurgery Erciyes University Kayseri Turkey"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Selcan","family":"Ozturk","sequence":"additional","affiliation":[{"name":"Faculty of Medicine, Department of Pediatrics, Division of Pediatric Neurology Erciyes University Kayseri Turkey"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Mehmet","family":"Canpolat","sequence":"additional","affiliation":[{"name":"Faculty of Medicine, Department of Pediatrics, Division of Pediatric Neurology Erciyes University Kayseri Turkey"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-0969-4611","authenticated-orcid":false,"given":"Munis","family":"Dundar","sequence":"additional","affiliation":[{"name":"Faculty of Medicine, Department of Medical Genetics Erciyes University Kayseri Turkey"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2025,9,26]]},"reference":[{"key":"e_1_2_9_2_1","doi-asserted-by":"publisher","DOI":"10.1002\/AJMG.A.62387"},{"key":"e_1_2_9_3_1","first-page":"1352","article-title":"Retinoic Acid Enhances Osteogenesis in Cranial Suture\u2013Derived Mesenchymal Cells: Potential Mechanisms of Retinoid\u2010Induced Craniosynostosis","volume":"125","author":"James A.","year":"2010","journal-title":"American Association of Plastic Surgeons"},{"key":"e_1_2_9_4_1","doi-asserted-by":"publisher","DOI":"10.4274\/JCRPE.693"},{"key":"e_1_2_9_5_1","doi-asserted-by":"publisher","DOI":"10.1002\/TERA.1420440603"},{"key":"e_1_2_9_6_1","doi-asserted-by":"publisher","DOI":"10.1016\/J.AJHG.2011.09.015"},{"key":"e_1_2_9_7_1","doi-asserted-by":"publisher","DOI":"10.1002\/humu.21517"},{"key":"e_1_2_9_8_1","doi-asserted-by":"publisher","DOI":"10.1186\/s13073\u2010020\u201000803\u20109"},{"key":"e_1_2_9_9_1","doi-asserted-by":"publisher","DOI":"10.1002\/DVDY.21878"},{"key":"e_1_2_9_10_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.37804"},{"key":"e_1_2_9_11_1","doi-asserted-by":"publisher","DOI":"10.4274\/JCRPE.2183"},{"key":"e_1_2_9_12_1","doi-asserted-by":"publisher","DOI":"10.1002\/TERA.1420210105"}],"container-title":["American Journal of Medical Genetics Part A"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/ajmg.a.64257","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2026,1,5]],"date-time":"2026-01-05T13:39:39Z","timestamp":1767620379000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/ajmg.a.64257"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2025,9,26]]},"references-count":11,"journal-issue":{"issue":"2","published-print":{"date-parts":[[2026,2]]}},"alternative-id":["10.1002\/ajmg.a.64257"],"URL":"https:\/\/doi.org\/10.1002\/ajmg.a.64257","archive":["Portico"],"relation":{},"ISSN":["1552-4825","1552-4833"],"issn-type":[{"type":"print","value":"1552-4825"},{"type":"electronic","value":"1552-4833"}],"subject":[],"published":{"date-parts":[[2025,9,26]]},"assertion":[{"value":"2022-06-24","order":0,"name":"received","label":"Received","group":{"name":"publication_history","label":"Publication History"}},{"value":"2025-09-08","order":2,"name":"accepted","label":"Accepted","group":{"name":"publication_history","label":"Publication History"}},{"value":"2025-09-26","order":3,"name":"published","label":"Published","group":{"name":"publication_history","label":"Publication History"}}]}}