Biallelic variants in NOS3 and GUCY1A3, the two major genes of the nitric oxide pathway, cause moyamoya cerebral angiopathy

BACKGROUND: Moyamoya angiopathy (MMA) is a rare cerebrovascular condition leading to stroke. Mutations in 15 genes have been identified in Mendelian forms of MMA, but they explain only a very small proportion of cases. Our aim was to investigate the genetic basis of MMA in consanguineous patients ha...

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Detalles Bibliográficos
Autores principales: Guey, Stéphanie, Hervé, Dominique, Kossorotoff, Manoëlle, Ha, Guillaume, Aloui, Chaker, Bergametti, Françoise, Arnould, Minh, Guenou, Hind, Hadjadj, Jessica, Dubois Teklali, Fanny, Riant, Florence, Balligand, Jean-Luc, Uzan, Georges, Villoutreix, Bruno O., Tournier-Lasserve, Elisabeth
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2023
Materias:
Research
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10026487/
https://www.ncbi.nlm.nih.gov/pubmed/36941667
http://dx.doi.org/10.1186/s40246-023-00471-x

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