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Article

Grange-Like Phenotype Associated With an RNF213 Pathogenic Variant: Expanding the Vasculopathy Spectrum.

American journal of medical genetics. Part A - 1 Aug 2026

Yilmaz Serife Ozturk, Yigit Ayca, Hatipoglu Sevcan, Gursoy Semra, Gulcu Aytac, Turhan Tuncer, Pekerbas Mert, Soylu Alper, Ozbek Ugur, Bozkaya Ozlem Giray

Abstract excerpt

Grange syndrome, caused by biallelic loss-of-function variants in YY1AP1, is characterized by multivascular stenoses, renovascular hypertension, brachydactyly, syndactyly, and mild cognitive impairment. Although RNF213 variants are typically associated with Moyamoya disease and systemic arterial stenosis, evidence suggests that pathogenic RNF213 variants may contribute to a broader vascular phenotype. We describe...

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Adenosine Triphosphatases
Adolescent
Brachydactyly
Genetic Association Studies
Intellectual Disability

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Moyamoya Disease

Ubiquitin-Protein Ligases

Source

Identifiers

PMID: 41937270
DOI: 10.1002/ajmg.a.70158

Genes

RNF213
YY1AP1

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 1 Sept 2026.

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Grange-Like Phenotype Associated With an RNF213 Pathogenic Variant: Expanding the Vasculopathy Spectrum.PMID 41937270Read ↗

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