Five new cases of syndromic intellectual disability due to KAT6A mutations: widening the molecular and clinical spectrum

Pathogenic variants of the lysine acetyltransferase 6A or KAT6A gene are associated with a newly identified neurodevelopmental disorder characterized mainly by intellectual disability of variable severity and spe...

Source: Orphanet Journal of Rare Diseases - February 10, 2020 Category: Internal Medicine Authors: Roser Urreizti, Estrella Lopez-Martin, Antonio Martinez-Monseny, Montse Pujadas, Laura Castilla-Vallmanya, Luis Alberto P érez-Jurado, Mercedes Serrano, Daniel Natera-de Benito, Beatriz Martínez-Delgado, Manuel Posada-de-la-Paz, Javier Alonso, Purificac Tags: Research Source Type: research