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- Title
Surgical Options and Genetic Screening of a Patient With Moyamoya Disease Harboring the RNF213 p.R4180 K Homozygous Variant.
- Authors
Nomura, Shunsuke; Akagawa, Hiroyuki; Yamaguchi, Koji; Kawashima, Akitsugu; Kawamata, Takakazu
- Abstract
The article by Zhang et al[1] titled "Clinical Features and Surgical Outcomes of Patients With Moyamoya Disease and the Homozygous I RNF213 i p.R4810 K Variant" reported the long-term outcomes of patients with moyamoya disease harboring the homozygous I RNF213 i p.R4810 K founder variant and treated by an indirect bypass. At almost the same time as their article was published, we also reported the genotype-phenotype correlation in 94 patients with moyamoya disease, including patients with 5 homozygous p.R4810 K variants.[2] In our series, all patients underwent direct or combined bypass, and the median follow-up period was 8 years 4 months.
- Subjects
MOYAMOYA disease; GENETIC testing
- Publication
Journal of Child Neurology, 2020, Vol 35, Issue 9, p621
- ISSN
0883-0738
- Publication type
Letter
- DOI
10.1177/0883073820913373