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
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