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Article

Exome sequencing revealed a novel homozygous METTL23 gene mutation leading to familial mild intellectual disability with dysmorphic features.

European journal of medical genetics - 1 Jul 2020

Smaili W, Elalaoui S Chafai, Zrhidri A, Raymond L, Egéa G, Taoudi M, Mouatassim S E L, Sefiani A, Lyahyai J

Abstract excerpt

BACKGROUND: Genetic factors represent a considerable part of the etiologies of intellectual disability; however, the identification of causal genetic anomaly has long been complicated by the great clinical and genetic heterogeneity of this type of disease. With advances in next-generation sequencing technologies and functional studies, the identification of genes involved in intellectual development has led to...

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PMID: 32439618
DOI: 10.1016/j.ejmg.2020.103951

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