TY  - GEN
AU  - Urreizti, Roser
AU  - Lopez-Martin, Estrella
AU  - Martinez-Monseny, Antonio
AU  - Pujadas, Montse
AU  - Castilla-Vallmanya, Laura
AU  - Pérez-Jurado, Luis Alberto
AU  - Serrano, Mercedes
AU  - Natera-de Benito, Daniel
AU  - Martinez-Delgado, Beatriz
AU  - Posada De la Paz, Manuel
AU  - Alonso, Javier
AU  - Marin-Reina, Purificación
AU  - O'Callaghan, Mar
AU  - Grinberg, Daniel
AU  - Bermejo-Sanchez, Eva
AU  - Balcells, Susanna
PY  - 2020
DO  - 10.1186/s13023-020-1317-9
SN  - 1750-1172
UR  - http://hdl.handle.net/20.500.12105/9753
AB  - BACKGROUND: 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 speech delay, hypotonia, and...
LA  - eng
PB  - BioMed Central (BMC)
KW  - Clinical characterization
KW  - Clinical genetics
KW  - KAT6A
KW  - Neurodevelopmental disease
KW  - Whole exome sequencing
TI  - Five new cases of syndromic intellectual disability due to KAT6A mutations: widening the molecular and clinical spectrum
TY  - research article
ER  -