Article
Disease Variant Landscape of a Large Multiethnic Population of Moyamoya Patients by Exome Sequencing.
G3 (Bethesda, Md.) - 3 Nov 2015
Shoemaker Lorelei D, Clark Michael J, Patwardhan Anil, Chandratillake Gemma, Garcia Sarah, Chen Rong, Morgan Alexander A, Leng Nan, Kirk Scott, Chen Richard, Cook Douglas J, Snyder Michael, Steinberg Gary K
Abstract excerpt
Moyamoya disease (MMD) is a rare disorder characterized by cerebrovascular occlusion and development of hemorrhage-prone collateral vessels. Approximately 10-12% of cases are familial, with a presumed low penetrance autosomal dominant pattern of inheritance. Diagnosis commonly occurs only after clinical presentation. The recent identification of the RNF213 founder mutation (p.R4810K) in the Asian population has...
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.