Ontology highlight
ABSTRACT:
SUBMITTER: van Ravenswaaij-Arts C
PROVIDER: S-EPMC6591023 | biostudies-literature | 2017 Dec
REPOSITORIES: biostudies-literature
van Ravenswaaij-Arts Conny C Martin Donna M DM
American journal of medical genetics. Part C, Seminars in medical genetics 20171124 4
CHARGE syndrome is a multiple congenital anomaly condition caused, in a majority of individuals, by loss of function pathogenic variants in the gene CHD7. In this special issue of the American Journal of Medical Genetics part C, authors of eleven manuscripts describe specific organ system features of CHARGE syndrome, with a focus on recent developments in diagnosis, etiologies, and treatments. Since 2004, when CHD7 was identified as the major causative gene in CHARGE, several animal models (mice ...[more]