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Rapid progression of unilateral moyamoya disease in a patient with a family history and an RNF213 risk variant.

Cerebrovascular diseases (Basel, Switzerland) - 1 Jan 2013

Mineharu Yohei, Takagi Yasushi, Takahashi Jun C, Hashikata Hirokuni, Liu Wanyang, Hitomi Toshiaki, Kobayashi Hatasu, Koizumi Akio, Miyamoto Susumu

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Adenosine Triphosphatases
Disease Progression
Genetic Predisposition to Disease
Moyamoya Disease
Mutation
Pedigree

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Ubiquitin-Protein Ligases

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PMID: 24029639
DOI: 10.1159/000352065

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Rapid progression of unilateral moyamoya disease in a patient with a family history and an RNF213 risk variant.PMID 24029639Read ↗

Atypical presentation of moyamoya disease in an infant with a de novo RNF213 variant.Semantic proximity Read ↗

Homozygosity for moyamoya disease risk allele leads to moyamoya disease with extracranial systemic and pulmonary vasculopathy.Semantic proximity Read ↗

An Overview of Genetics of Moyamoya: Beyond RNF213 Gene.Semantic proximity Read ↗

Sibling cases of moyamoya disease having homozygous and heterozygous c.14576G>A variant in RNF213 showed varying clinical course and severity.Semantic proximity Read ↗

RNF213-Related Vasculopathy: Various Systemic Vascular Diseases Involving RNF213 Gene Mutations: Review.Semantic proximity Read ↗

Differing phenotypes of Moyamoya disease in a familial case involving heterozygous c.14429G > A variant in RNF213.Semantic proximity Read ↗

First Report: Rare RNF213 Variant Associated with Familial Moyamoya Disease in an African American Family.Semantic proximity Read ↗

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RNF213 in moyamoya disease: Genotype-phenotype association and the underlying mechanism.Semantic proximity Read ↗

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Mystery(n) Phenotypic Presentation in Europeans: Report of Three Further Novel Missense RNF213 Variants Leading to Severe Syndromic Forms of Moyamoya Angiopathy and Literature Review.Semantic proximity Read ↗

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