Article
DIAPH1 Variants in Non-East Asian Patients With Sporadic Moyamoya Disease.
JAMA neurology - 1 Aug 2021
Kundishora Adam J, Peters Samuel T, Pinard Amélie, Duran Daniel, Panchagnula Shreyas, Barak Tanyeri, Miyagishima Danielle F, Dong Weilai, Smith Hannah, Ocken Jack, Dunbar Ashley, Nelson-Williams Carol, Haider Shozeb, Walker Rebecca L, Li Boyang, Zhao Hongyu, Thumkeo Dean, Marlier Arnaud, Duy Phan Q, Diab Nicholas S, Reeves Benjamin C, Robert Stephanie M, Sujijantarat Nanthiya, Stratman Amber N, Chen Yi-Hsien, Zhao Shujuan, Roszko Isabelle, Lu Qiongshi, Zhang Bo, Mane Shrikant, Castaldi Christopher, López-Giráldez Francesc, Knight James R, Bamshad Michael J, Nickerson Deborah A, Geschwind Daniel H, Chen Shih-Shan Lang, Storm Phillip B, Diluna Michael L, Matouk Charles C, Orbach Darren B, Alper Seth L, Smith Edward R, Lifton Richard P, Gunel Murat, Milewicz Dianna M, Jin Sheng Chih, Kahle Kristopher T
Abstract excerpt
Importance: Moyamoya disease (MMD), a progressive vasculopathy leading to narrowing and ultimate occlusion of the intracranial internal carotid arteries, is a cause of childhood stroke. The cause of MMD is poorly understood, but genetic factors play a role. Several familial forms of MMD have been identified, but the cause of most cases remains elusive, especially among non-East Asian individuals. Objective: To...
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