Koolen-de Vries syndrome(KdVS,OMIM#610443)is a neurodevelopmental disorder characterized by distinctive facial characteristics,intellectual disability,and friendly behavior.A full KdVS phenotype can be caused by a rec...Koolen-de Vries syndrome(KdVS,OMIM#610443)is a neurodevelopmental disorder characterized by distinctive facial characteristics,intellectual disability,and friendly behavior.A full KdVS phenotype can be caused by a recurrent 17q21.31 deletion of 0.3–0.6 Mb,as observed in about 70%–80%of cases,or by predicted truncating variants(PTVs)in KANSL1(KAT8 regulatory NSL complex subunit 1)in the remaining 20%–30%of patients.展开更多
基金supported by PRIN(Progetto di Ricerca di Rilevante Interesse Nazionale)2022(No.L4F87B to M.Z.)funded by the European Union NextGenerationEU and the Italian"Ministero dell’Universitàe della Ricerca".
文摘Koolen-de Vries syndrome(KdVS,OMIM#610443)is a neurodevelopmental disorder characterized by distinctive facial characteristics,intellectual disability,and friendly behavior.A full KdVS phenotype can be caused by a recurrent 17q21.31 deletion of 0.3–0.6 Mb,as observed in about 70%–80%of cases,or by predicted truncating variants(PTVs)in KANSL1(KAT8 regulatory NSL complex subunit 1)in the remaining 20%–30%of patients.
