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Browsing Documents OpenAIRE (Open Access Infrastructure for Research in Europe) by Author "O'Callaghan, Mar"

Browsing Documents OpenAIRE (Open Access Infrastructure for Research in Europe) by Author "O'Callaghan, Mar"

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  • Five new cases of syndromic intellectual disability due to KAT6A mutations: widening the molecular and clinical spectrum
    Urreizti, Roser; López Martín, Estrella; Martínez Monseny, Antonio Federico; Pujadas, Montse; Castilla-Vallmanya, Laura; Pérez Jurado, Luis Alberto; Serrano, Mercedes L.; Natera de Benito, Daniel; Martínez Delgado, Beatriz; Posada de la Paz, Manuel; Alonso, Javier; Marín Reina, Purificación; O'Callaghan, Mar; Grinberg, Daniel; Bermejo Sánchez, Eva; Balcells, Susana (BioMed Central, 2020)
    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 ...

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