martes, 11 de febrero de 2020

Five new cases of syndromic intellectual disability due to KAT6A mutations: widening the molecular and clinical spectrum | Orphanet Journal of Rare Diseases | Full Text

Five new cases of syndromic intellectual disability due to KAT6A mutations: widening the molecular and clinical spectrum | Orphanet Journal of Rare Diseases | Full Text

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...
Authors:Roser Urreizti, Estrella Lopez-Martin, Antonio Martinez-Monseny, Montse Pujadas, Laura Castilla-Vallmanya, Luis Alberto Pérez-Jurado, Mercedes Serrano, Daniel Natera-de Benito, Beatriz Martínez-Delgado, Manuel Posada-de-la-Paz, Javier Alonso, Purificación Marin-Reina, Mar O’Callaghan, Daniel Grinberg, Eva Bermejo-Sánchez and Susanna Balcells
Citation:Orphanet Journal of Rare Diseases 2020 15:44
Content type:Research
Published on: 

No hay comentarios:

Publicar un comentario