“Novel p.Tyr284Cys BEST1 genotype–phenotype correlations of Vitelliform Macular Dystrophy in a family with incomplete penetrance”-Reference-Cited by-同舟云学术

“Novel p.Tyr284Cys BEST1 genotype–phenotype correlations of Vitelliform Macular Dystrophy in a family with incomplete penetrance”

Published:2020-03-03 Issue:2 Volume:41 Page:183-188
ISSN:1381-6810
Container-title:Ophthalmic Genetics
language:en
Short-container-title:Ophthalmic Genetics

Author:

Garza-Garza Lucas Antonio¹^ORCID,León-Cachón Rafael Baltazar Reyes²^ORCID,Aguirre-Garza Marcelino²^ORCID,Garza-Leon Manuel³^ORCID

Affiliation:

1. Escuela de Medicina y Ciencias de la Salud, Tecnologico de Monterrey, Monterrey, México

2. Centro de Diagnóstico Molecular y Medicina Personalizada, Departamento de Ciencias Básicas, Escuela de Medicina, Vicerrectoría de Ciencias de la Salud, Universidad de Monterrey, Monterrey, México

3. Departamento de Ciencias Clínicas de la División de Ciencias de la Salud, Universidad de Monterrey, San Pedro Garza García, México

Publisher

Informa UK Limited

Subject

Genetics(clinical),Ophthalmology,Pediatrics, Perinatology, and Child Health

Link

https://www.tandfonline.com/doi/pdf/10.1080/13816810.2020.1744020

Reference24 articles.

1. A NOVEL P.ASP304GLY MUTATION IN BEST1 GENE ASSOCIATED WITH ATYPICAL BEST VITELLIFORM MACULAR DYSTROPHY PHENOTYPE AND HIGH INTRAFAMILIAL VARIABILITY

2. Mutations in a novel gene, VMD2, encoding a protein of unknown properties cause juvenile-onset vitelliform macular dystrophy (Best's disease)

3. Bestrophin 1 and retinal disease

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1. A pathogenic in-frame deletion-insertion variant in BEST1 phenocopies Stargardt disease;JCI Insight;2022-12-08

2. Bilateral consecutive choroidal neovascularization in Best vitelliform macular dystrophy;Baylor University Medical Center Proceedings;2022-05-05