Correspondence on "De novo variants in MED12 cause X-linked syndromic neurodevelopmental disorders in 18 females" by Polla et al.

Florence RiccardiAlexandre AstierMargot GrisvalArnaud MaillardVincent MichaudCatherine BadensChristopher T GordonAurélien TrimouilleLaurence FaivreJeanne AmielSabine SigaudySvetlana Gorokhova

Published in: Genetics in medicine : official journal of the American College of Medical Genetics (2021)

Keyphrases

intellectual disability
copy number
congenital heart disease
genome wide
dna methylation