Article
Atypical presentation of moyamoya disease in an infant with a de novo RNF213 variant.
American journal of medical genetics. Part A - 1 Nov 2015
Harel Tamar, Posey Jennifer E, Graham Brett H, Walkiewicz Magdalena, Yang Yaping, Lalani Seema R, Belmont John W
Abstract excerpt
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...
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