Publication
Five new cases of syndromic intellectual disability due to KAT6A mutations: widening the molecular and clinical spectrum
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, Susanna Balcells
Orphanet Journal of Rare Diseases, February 2020, Springer Science + Business Media
DOI: 10.1186/s13023-020-1317-9