Association of De Novo RNF213 Variants With Childhood Onset Moyamoya Disease and Diffuse Occlusive Vasculopathy

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 patien...

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Vydáno v:Neurology
Hlavní autoři: 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.
Médium: Artigo
Jazyk:Inglês
Vydáno: Lippincott Williams & Wilkins 2021
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Article
On-line přístup:https://ncbi.nlm.nih.gov/pmc/articles/PMC8055312/
https://ncbi.nlm.nih.gov/pubmed/33568546
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1212/WNL.0000000000011653
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