Ontology highlight
ABSTRACT:
SUBMITTER: Harel T
PROVIDER: S-EPMC4639746 | biostudies-literature | 2015 Nov
REPOSITORIES: biostudies-literature
Harel Tamar T Posey Jennifer E JE Graham Brett H BH Walkiewicz Magdalena M Yang Yaping Y Lalani Seema R SR Belmont John W JW
American journal of medical genetics. Part A 20150721 11
Variants in RNF213 lead to susceptibility to moyamoya disease, a rare cerebral angiopathy characterized by bilateral stenosis of the internal carotid arteries and development of a compensatory collateral network. We describe a 3-month-old female with seizures, arterial narrowing involving the internal carotid and intracranial arteries and inferior abdominal aorta, and persistently elevated transaminases. Whole exome sequencing demonstrated a novel de novo variant in RNF213, securing a molecular ...[more]