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Article

RNF213 vasculopathy manifested in various forms within a family: A case report.

Medicine - 15 Dec 2023

Lim Seong-Soo, Park Sangshin, Oh Byeong Ho, Jung Kiwook, Bae Jang-Whan, Bae Dae-Hwan

Abstract excerpt

RATIONALE: The ring finger protein 213 (RNF213) p.R4810K variant has been identified as being associated with Moyamoya disease (MMD), a condition that is more prevalent in East Asians. This association extends beyond cerebral vessels and has been implicated in coronary artery disease. PATIENT CONCERNS: A 36-year-old female was admitted to the emergency room with chest pain. Although the patient had no known...

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Adenosine Triphosphatases
Angina, Unstable
Coronary Artery Disease
Genetic Predisposition to Disease
Moyamoya Disease

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Ubiquitin-Protein Ligases

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PMID: 38115307
DOI: 10.1097/MD.0000000000036627
PMCID: PMC10727589

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