{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,7,20]],"date-time":"2026-07-20T10:09:57Z","timestamp":1784542197177,"version":"3.55.0"},"reference-count":31,"publisher":"Wiley","issue":"7","license":[{"start":{"date-parts":[[2023,4,13]],"date-time":"2023-04-13T00:00:00Z","timestamp":1681344000000},"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":[[2023,7]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>Koolen\u2010de Vries syndrome (KdVS) is a rare multisystemic disorder caused by a microdeletion on chromosome 17q21.31 including <jats:italic>KANSL1<\/jats:italic> gene or intragenic pathogenic variants in <jats:italic>KANSL1<\/jats:italic> gene. Here, we describe the clinical and genetic spectrum of eight Turkish children with KdVS due to a de novo 17q21.31 deletion, and report on several rare\/new conditions. Eight patients from unrelated families aged between 17\u2009months and 19\u2009years enrolled in this study. All patients evaluated by a clinical geneticist, and the clinical diagnosis were confirmed by molecular karyotyping. KdVS patients had some common distinctive facial features. All patients had neuromotor retardation, and speech and language delay. Epilepsy, structural brain anomalies, ocular, ectodermal, and musculoskeletal findings, and friendly personality were remarkable in more than half of the patients. Hypertension, hypothyroidism, celiac disease, and postaxial polydactyly were among the rare\/new conditions. Our study contributes to the clinical spectrum of patients with KdVS, while also provide a review by comparing them with previous cohort studies.<\/jats:p>","DOI":"10.1002\/ajmg.a.63207","type":"journal-article","created":{"date-parts":[[2023,4,13]],"date-time":"2023-04-13T17:44:57Z","timestamp":1681407897000},"page":"1814-1825","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":8,"title":["The clinical phenotype of Koolen\u2010de Vries syndrome in Turkish patients and literature review"],"prefix":"10.1002","volume":"191","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-8678-1666","authenticated-orcid":false,"given":"Gokcen","family":"Karamik","sequence":"first","affiliation":[{"name":"Department of Pediatrics, Division of Pediatric Genetics Akdeniz University  Antalya 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