Disease Variant Landscape of a Large Multiethnic Population of Moyamoya Patients by Exome Sequencing

Disease Variant Landscape of a Large Multiethnic Population of Moyamoya Patients by Exome Sequencing

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 clin...

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Bibliographic Details
Main Authors: Lorelei D. Shoemaker, Michael J. Clark, Anil Patwardhan, Gemma Chandratillake, Sarah Garcia, Rong Chen, Alexander A. Morgan, Nan Leng, Scott Kirk, Richard Chen, Douglas J. Cook, Michael Snyder, Gary K. Steinberg
Format: Article
Language:English
Published: Oxford University Press 2016-01-01
Series:G3: Genes, Genomes, Genetics
Subjects:
cerebrovascular disease
hemorrhage
RNF213
ZXDC
OBSCN
Online Access:http://g3journal.org/lookup/doi/10.1534/g3.115.020321

Internet

http://g3journal.org/lookup/doi/10.1534/g3.115.020321

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