Article
Association of De Novo RNF213 Variants With Childhood Onset Moyamoya Disease and Diffuse Occlusive Vasculopathy.
Neurology - 30 Mar 2021
Pinard Amélie, Fiander Maximillian D J, Cecchi Alana C, Rideout Andrea L, Azouz Mohamed, Fraser Stuart M, McNeely P Daniel, Walling Simon, Novara Sarah C, Hurst Anna C E, Guo Dongchuan, Parkash Sandhya, Bamshad Michael J, Nickerson Deborah A, Vandersteen Anthony M, Milewicz Dianna M
Abstract excerpt
OBJECTIVE: To test the hypothesis that de novo genetic variants are responsible for moyamoya disease (MMD) in children with unaffected relatives, we performed exome sequencing of 28 affected children and their unaffected parents. METHODS: Exome sequencing was performed on 28 trios of affected patients with MMD and unaffected parents. RESULTS: We identified 3 novel rare de novo RNF213 variants, 1 in the RING...
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