Discover Community Create You

Loading publication...

Noodle always counts identifier-free feature events for service operation. With your permission, Google Analytics can also estimate audience and engagement. Search text, publication identifiers, cookies, IP addresses and browser fingerprints are never included in Noodle's first-party event counters.

Privacy details

Article

Different phenotypes of moyamoya disease in a Chinese familial case involving heterozygous c.14429G>a variant in RNF213.

British journal of neurosurgery - 1 Dec 2023

Li Feng, Huang Yuan-Yuan, Zhang Sai, Wang Wei

Abstract excerpt

PURPOSE: Moyamoya disease (MMD) is an uncommon chronic and occlusive cerebrovascular disorder involving the development of abnormal collateral vessels. This report aimed to describe a Chinese familial case with a rare variant in the RNF213 gene. METHODS: The present report presents a rare familial case of MMD involving a heterozygous c.14429G>A variant in RNF213 and exhibiting different phenotypes. RESULTS: A...

Read the complete abstract on PubMed

Topics

Share this publication in a Topic to start or enrich a Post.

Share to Adenosine Triphosphatases
Share to Child
Share to Child, Preschool

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Dyskinesias

Share to East Asian People

Share to Genetic Predisposition to Disease

Share to Moyamoya Disease

Share to Ubiquitin-Protein Ligases

Source

Identifiers

PMID: 35642380
DOI: 10.1080/02688697.2021.1916433

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 3 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Different phenotypes of moyamoya disease in a Chinese familial case involving heterozygous c.14429G>a variant in RNF213.PMID 35642380Read ↗

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

Moyamoya Disease and Spectrums of RNF213 Vasculopathy.Semantic proximity Read ↗

RNF213 as the major susceptibility gene for Chinese patients with moyamoya disease and its clinical relevance.Semantic proximity Read ↗

Development of atherosclerotic-moyamoya syndrome with genetic variant of RNF213 p.R4810K and p.T1727M: A case report.Semantic proximity Read ↗

Familial moyamoya disease in two Turkish siblings with same polymorphism in RNF213 gene but different clinical features.Semantic proximity Read ↗

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

RNF213 p.Arg4810Lys Heterozygosity in Moyamoya Disease Indicates Early Onset and Bilateral Cerebrovascular Events.Semantic proximity Read ↗

Role of Ring Finger Protein 213 in Moyamoya Disease.Semantic proximity Read ↗

Importance of RNF213 polymorphism on clinical features and long-term outcome in moyamoya disease.Semantic proximity Read ↗

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

⌁Select a neighboring publication to make it the new centre.