Article
The clinical phenotype of Koolen-de Vries syndrome in Turkish patients and literature review.
American journal of medical genetics. Part A - 1 Jul 2023
Karamik Gokcen, Tuysuz Beyhan, Isik Esra, Yilmaz Aysegul, Alanay Yasemin, Sunamak Evrim Cifci, Durmusalioglu Enise Avci, Ozkinay Ferda, Cetin Gokhan Ozan, Ozturk Nuray, Mihci Ercan, Nur Banu
Abstract excerpt
Koolen-de Vries syndrome (KdVS) is a rare multisystemic disorder caused by a microdeletion on chromosome 17q21.31 including KANSL1 gene or intragenic pathogenic variants in KANSL1 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 months...
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