Ontology highlight
ABSTRACT:
SUBMITTER: Moccia A
PROVIDER: S-EPMC6034995 | biostudies-literature | 2018 Sep
REPOSITORIES: biostudies-literature
Moccia Amanda A Srivastava Anshika A Skidmore Jennifer M JM Bernat John A JA Wheeler Marsha M Chong Jessica X JX Nickerson Deborah D Bamshad Michael M Hefner Margaret A MA Martin Donna M DM Bielas Stephanie L SL
Genetics in medicine : official journal of the American College of Medical Genetics 20180104 9
<h4>Purpose</h4>CHARGE syndrome is an autosomal-dominant, multiple congenital anomaly condition characterized by vision and hearing loss, congenital heart disease, and malformations of craniofacial and other structures. Pathogenic variants in CHD7, encoding adenosine triphosphate-dependent chromodomain helicase DNA binding protein 7, are present in the majority of affected individuals. However, no causal variant can be found in 5-30% (depending on the cohort) of individuals with a clinical diagn ...[more]