Open AccessAssociation of De Novo RNF213 Variants With Childhood Onset Moyamoya Disease and Diffuse Occlusive Vasculopathy
Author(s) -
Amélie Pinard,
Maximillian D.J. Fiander,
Alana C. Cecchi,
Andrea L. Rideout,
MM Azouz,
Stuart Fraser,
P. Daniel McNeely,
Simon Walling,
Sarah C. Novara,
Anna Hurst,
Dongchuan Guo,
Sandhya Parkash,
Michael J. Bamshad,
Deborah A. Nickerson,
Anthony Vandersteen,
Dianna M. Milewicz
Publication year - 2021
Publication title -
neurology
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 2.91
H-Index - 364
eISSN - 1526-632X
pISSN - 0028-3878
DOI - 10.1212/wnl.0000000000011653
Subject(s) - moyamoya disease , medicine , exome sequencing , exome , abdominal aorta , genetics , pathology , aorta , mutation , biology , gene
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.