Adult phenotype in Koolen-de Vries/KANSL1 haploinsufficiency syndrome.
Simona AmentaSilvia FrangellaGiuseppe MarangiSerena LattanteStefania RicciardiPaolo Niccolò DoronzioDaniela OrteschiChiara VerediceIlaria ContaldoGiuseppe ZampinoMattia GentileEmanuela ScaranoClaudio GrazianoMarcella ZollinoPublished in: Journal of medical genetics (2020)
Distinctive features in adult KdVS subjects include intellectual disability, overweight/obesity, behaviour abnormalities with preserved social interest, ability in language, slight worsening of the facial phenotype and no seizures.