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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

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