Koolen-de Vries syndrome – National Case Series with clinical and molecular characterization

Soares, Marta P.Rodrigues, MárciaDupont, JulietteMedeira, AnaFreixo, JoãoNunes, SofiaCordeiro, IsabelTravessa, AndréSoares, GabrielaFortuna, AnaRamos, FabianaSá, JoaquimRocha, SusanaFigueiredo, CristinaMendonça, CarlaTapadinhas, FernandoSilveira-Santos, RosárioCustódio, SóniaBarreta, AnaSerafim, SílviaCorreia, HildebertoVal, MarianaCarreira, Isabel M.Rendeiro, PaulaSousa, AnaSousa, Ana Berta2020-06-092020-06-092019-11-14http://hdl.handle.net/10400.18/6968Introduction: Koolen-de Vries Syndrome (KdVS) is a rare genetic condition, caused by a 17q21.31 microdeletion, or a pathogenic variant in KANSL1 gene. The clinical picture includes developmental delay (DD)/intellectual disability (ID) with expressive language particularly impaired, dysmorphisms, neonatal hypotonia, and friendly behaviour. Aim: To characterize at the molecular and clinical levels all patients in Portugal diagnosed with KdVS.engKoolen-de Vries syndromeNational Case Series17q21.31 DeletionKANSL1 geneDoenças GenéticasKoolen-de Vries syndrome – National Case Series with clinical and molecular characterizationconference object