Background CHARGE syndrome is a highly variable, multiple congenital anomaly
syndrome, of which the complete phenotypic spectrum was only revealed after identification …

CHARGE syndrome was initially defined as a non-random association of anomalies
(Coloboma, Heart defect, Atresia choanae, Retarded growth and development, Genital …

Background Previous studies have suggested that etiologic heterogeneity may complicate
epidemiologic analyses designed to identify risk factors for birth defects. Case classification …

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

CHARGE syndrome [coloboma of the eye, heart defects, atresia of the choanae, retardation
of growth and/or development, genital and/or urinary abnormalities, and ear abnormalities …

CHD7 is a member of the chromodomain helicase DNA‐binding (CHD) protein family that
plays a role in transcription regulation by chromatin remodeling. Loss‐of‐function mutations …

Background: CHARGE syndrome is a non-random clustering of congenital anomalies
including coloboma, heart defects, choanal atresia, retarded growth and development …

CHARGE syndrome is a well-established multiple-malformation syndrome with distinctive
consensus diagnostic criteria. Characteristic associated anomalies include ocular …

CHARGE syndrome: A review - Hsu - 2014 - Journal of Paediatrics and Child Health - Wiley
Online Library Skip to Article Content Skip to Article Information Wiley Online Library Wiley …

CHARGE syndrome is a rare, usually sporadic autosomal dominant disorder due in 2/3 of
cases to mutations within the CHD7 gene. The clinical definition has evolved with time. The …