Epigenetic dysregulation has emerged as a recurring mechanism in the etiology of
neurodevelopmental disorders. Two such disorders, CHARGE and Kabuki syndromes …

Epigenetic dysregulation has emerged as a recurring mechanism in the etiology of
neurodevelopmental disorders. Two such disorders, CHARGE and Kabuki syndromes …

CHARGE syndrome is a complex developmental disorder caused by mutations in the
chromodomain helicase DNA-binding gene CHD7. Kabuki syndrome, another …

Kabuki syndrome is an autosomal dominant developmental disorder with high similarities to
CHARGE syndrome. It is characterized by a typical facial gestalt in combination with short …

Abstract Lysine methyltransferase 2D (KMT2D; OMIM 602113) encodes a histone
methyltransferase involved in transcriptional regulation of the beta‐globin and estrogen …

The search for aetiology of Mendelian disorders is traditionally based on the observation of
clinical phenotypes and molecular screening of associated genes. However, a disease …

Kabuki syndrome (KS) is a rare genetic disease that causes developmental delay and
congenital anomalies. Since the identification of MLL2 mutations as the primary cause of KS …

Kabuki syndrome (KS) is a neurodevelopmental disorder characterized by hypotonia,
intellectual disability, skeletal anomalies, and postnatal growth restriction. The characteristic …

Recognition of distinct phenotypic features is an important component of genetic diagnosis.
Although CHARGE syndrome, Kabuki syndrome, and a recently delineated KMT2D Ex …

Methods Over 100 individuals with KMT2D variants spanning the entire mutation spectrum
were included in the study following informed consent and REB approval. Genome-wide …