Article
ZDHHC15 as a candidate gene for autism spectrum disorder.
American journal of medical genetics. Part A - 1 Apr 2023
Casellas-Vidal Dolors, Mademont-Soler Irene, Sánchez Joana, Plaja Alberto, Castells Neus, Camós Maria, Nieto-Moragas Javier, Del Mar García Maria, Rodriguez-Solera Celia, Rivera Helena, Brunet Joan, Álvarez Sara, Perapoch Josep, Queralt Xavier, Obón María
Abstract excerpt
The phenotypic repercussion of ZDHHC15 haploinsufficiency is not well-known. This gene was initially suggested as a candidate for X-linked mental retardation, but such an association was later questioned. We studied a multiplex family with three members with autism spectrum disorder (ASD) by array CGH, karyotype, exome sequencing and X-chromosome inactivation patterns. Medical history interviews, cognitive and...
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