Article
PLXNA2 and LRRC40 as candidate genes in autism spectrum disorder.
Autism research : official journal of the International Society for Autism Research - 1 Jun 2021
Pijuan Jordi, Ortigoza-Escobar Juan Darío, Ortiz Juan, Alcalá Adrián, Calvo María José, Cubells Mariona, Hernando-Davalillo Cristina, Palau Francesc, Hoenicka Janet
Abstract excerpt
Autism spectrum disorder (ASD) is a neurodevelopmental disability with high heritability yet the genetic etiology remains elusive. Therefore, it is necessary to elucidate new genotype-phenotype relationships for ASD to improve both the etiological knowledge and diagnosis. In this work, a copy-number variant and whole-exome sequencing analysis were performed in an ASD patient with a complex neurobehavioral...
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