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Article

The first reported case of an inherited pathogenic CHD2 variant in a clinically affected mother and daughter.

American journal of medical genetics. Part A - 1 Jul 2018

Petersen Andrea Klunder, Streff Haley, Tokita Mari, Bostwick Bret L

Abstract excerpt

Pathogenic variants in CHD2 (chromodomain helicase DNA-binding protein 2) have been reported in neurodevelopmental disorders with a broad spectrum of phenotypic variability, ranging from mild intellectual disability to atonic-myoclonic epilepsy. However, given the paucity of reported cases the extent of this phenotypic spectrum is currently unknown. Furthermore, all confirmed pathogenic CHD2 variants reported to...

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Identifiers

PMID: 29740950
DOI: 10.1002/ajmg.a.38835

Genes

CHD2

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