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...

ver descrição completa

Na minha lista:
Detalhes bibliográficos
Publicado no:Genes (Basel)
Main Authors: 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: Artigo
Idioma:Inglês
Publicado em: MDPI 2019
Assuntos:
Article
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC6947566/
https://ncbi.nlm.nih.gov/pubmed/31766397
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.3390/genes10120953
Tags: Adicionar Tag
Sem tags, seja o primeiro a adicionar uma tag!

Registos relacionados