Behavioral signs of CHARGE syndrome and CHD7 mutational spectrum

Introduction CHARGE syndrome is a genetic entity caused by mutations in the chromodomain helicase DNA-binding protein 7 gene (CHD7) at 8q12.1. There are pleiotropic signs among individuals with this disorder. Diagnosis is clinical using medical criteria. CHD7 gene mutations are usually found in 90%...

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Bibliographic Details
Main Authors: N. Bouayed Abdelmoula, B. Abdelmoula
Format: Article
Language:English
Published: Cambridge University Press 2023-03-01
Series:European Psychiatry
Online Access:https://www.cambridge.org/core/product/identifier/S0924933823007678/type/journal_article