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Article

An Overview of Genetics of Moyamoya: Beyond RNF213 Gene.

International journal of molecular sciences - 15 May 2026

Sorte Giovanni, Cantone Mariagiovanna, Bella Rita, Salemi Michele, Zedde Marialuisa, Zappia Mario

Abstract excerpt

Moyamoya angiopathy (MMA) is a rare, chronic progressive cerebrovascular condition characterized by bilateral stenosis or occlusion of the terminal internal carotid arteries and their major branches. This progressive occlusion triggers the development of telangiectatic and fragile vessels at the base of the brain, creating the characteristic angiographic appearance of a "puff of smoke." Depending on the etiology,...

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Topics

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Open in PubMed Open full text

Identifiers

PMID: 42196405
DOI: 10.3390/ijms27104431
PMCID: PMC13208044

Genes

RNF213
MMD
ACTA2
MYH11

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026.

Related research

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