Zeitschrift für Down-Syndrom und Chromosomenanomalien
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A Novel Genetic Syndrome Caused by Haploinsufficiency of CHD2, a Regulator of Chromatin Structure

Kathleen Bone and Bob Argiropoulos

Dynamic regulation of gene transcription, achieved through epigenetic modification of DNA/histones and chromatin remodeling, is essential for cell differentiation and development [1]. An emerging theme in the pathogenesis of genetic disease, including intellectual disability (ID), autism spectrum disorder (ASD) and congenital multisystem disorders, is the identification of mutations in genes involved in epigenetic modification or chromatin remodeling.