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Article

Genetic variations on SETD5 underlying autistic conditions.

Developmental neurobiology - 1 May 2018

Fernandes Isabella R, Cruz Ana C P, Ferrasa Adriano, Phan Dylan, Herai Roberto H, Muotri Alysson R

Abstract excerpt

The prevalence of autism spectrum disorders (ASD) and the number of identified ASD-related genes have increased in recent years. The SETD5 gene encodes a SET-containing-domain 5 protein, a likely reader enzyme. Genetic evidences suggest that SETD5 malfunction contributes to ASD phenotype, such as on intellectual disability (ID) and facial dysmorphism. In this review, we mapped the clinical phenotypes of...

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Identifiers

PMID: 29484850
DOI: 10.1002/dneu.22584

Genes

SETD5
SET

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