Clinical and Genetic Findings of Autosomal Recessive Bestrophinopathy (ARB)

Mutations in BEST1 cause several phenotypes including autosomal dominant (AD) Best vitelliform macular dystrophy type 2 (BVMD), AD vitreo-retino-choroidopathy (ADVIRC), and retinitis pigmentosa-50 (RP50). A rare subtype of Bestrophinopathy exists with biallelic mutations in BEST1. Its frequency is e...

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Detalles Bibliográficos
Autores principales: Habibi, Imen, Falfoul, Yosra, Todorova, Margarita G., Wyrsch, Stefan, Vaclavik, Veronika, Helfenstein, Maria, Turki, Ahmed, El Matri, Khaled, El Matri, Leila, Schorderet, Daniel F.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2019
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6947566/
https://www.ncbi.nlm.nih.gov/pubmed/31766397
http://dx.doi.org/10.3390/genes10120953

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6947566/
https://www.ncbi.nlm.nih.gov/pubmed/31766397
http://dx.doi.org/10.3390/genes10120953

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