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

Moyamoya angiopathy (MMA) is a rare cerebral vasculopathy in some cases occurring in children. Incidence is higher in East Asia, where the heterozygous p.Arg4810Lys variant in RNF213 (Mysterin) represents the major susceptibility factor. Rare variants in RNF213 have also been found in European MMA p...

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Detalles Bibliográficos
Autores principales: Santoro, Claudia, Mirone, Giuseppe, Zanobio, Mariateresa, Ranucci, Giusy, D’Amico, Alessandra, Cicala, Domenico, Iascone, Maria, Bernardo, Pia, Piccolo, Vincenzo, Ronchi, Andrea, Limongelli, Giuseppe, Carotenuto, Marco, Nigro, Vincenzo, Cinalli, Giuseppe, Piluso, Giulio
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2022
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9408709/
https://www.ncbi.nlm.nih.gov/pubmed/36012218
http://dx.doi.org/10.3390/ijms23168952

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