학술논문
Five new cases of syndromic intellectual disability due to KAT6A mutations: widening the molecular and clinical spectrum.
Document Type
Journal Article
Author
Urreizti, Roser; Lopez-Martin, Estrella; Martinez-Monseny, Antonio; Pujadas, Montse; Castilla-Vallmanya, Laura; Pérez-Jurado, Luis Alberto; Serrano, Mercedes; Natera-de Benito, Daniel; Martínez-Delgado, Beatriz; Posada-de-la-Paz, Manuel; Alonso, Javier; Marin-Reina, Purificación; O'Callaghan, Mar; Grinberg, Daniel; Bermejo-Sánchez, Eva; Balcells, Susanna
Source
Subject
*MOLECULAR spectra
*INTELLECTUAL disabilities
*DISABILITIES
*MISSENSE mutation
*DEVELOPMENTAL delay
*RNA splicing
*TREATMENT delay (Medicine)
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Language
ISSN
1750-1172
Abstract