Case of Small Vessel Disease Associated with COL4A1 Mutations following Trauma

Case of Small Vessel Disease Associated with COL4A1 Mutations following Trauma

With this case report, we would like to heighten the awareness of clinicians about COL4A1 as a single-gene disorder causing cerebral small vessel disease and describe a previously unreported pathogenic missense substitution in COL4A1 (p.Gly990Val) and a new clinical presentation. We identified a het...

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Bibliographic Details
Main Authors: Joao McONeil Plancher, Robert B. Hufnagel, Achala Vagal, Katrina Peariso, Howard M. Saal, Joseph P. Broderick
Format: Article
Language:English
Published: Karger Publishers 2015-06-01
Series:Case Reports in Neurology
Subjects:
COL4A1
Cerebral small vessel disease
Heterozygous putatively pathogenic mutation
Online Access:http://www.karger.com/Article/FullText/431309

Internet

http://www.karger.com/Article/FullText/431309

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