Variable expressivity of BEST1-associated autosomal dominant vitreoretinochoroidopathy (ADVIRC) in a three-generation pedigree

OBJECTIVE: Autosomal dominant vitreoretinochoroidopathy (ADVIRC) is associated with pathogenic variants in BEST1, which typically causes visual impairment in the late stage of disease. We present a pedigree with variable expressivity and the youngest case in the literature with visual impairment in...

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Detalles Bibliográficos
Autores principales: da Palma, Mariana Matioli, Vargas, Maurício E, Burr, Amanda, Chen, Rui, Pennesi, Mark E, Weleber, Richard G, Yang, Paul
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BMJ Publishing Group 2021
Materias:
Genetics
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8532547/
https://www.ncbi.nlm.nih.gov/pubmed/34746433
http://dx.doi.org/10.1136/bmjophth-2021-000813

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8532547/
https://www.ncbi.nlm.nih.gov/pubmed/34746433
http://dx.doi.org/10.1136/bmjophth-2021-000813

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