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BEST1 novel mutation causes Bestrophinopathies in six families with distinct phenotypic diversity

PURPOSE: To report novel BEST1 variants in six Chinese families with bestrophinopathies of two different inheritance modes and analyze the intrafamilial phenotypic diversity. METHOD: A total of 25 participants including 13 patients and 12 healthy family members from 6 Chinese families with bestrophi...

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Detalles Bibliográficos
Autores principales:	Yang, Shangying, Li, Zhen, Cheng, Wanyu, Ma, Meijiao, Qi, Rui, Rui, Xue, Ren, Yinghua, Sheng, Xunlun, Rong, Weining
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	John Wiley and Sons Inc. 2022
Materias:	Original Articles
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9834154/ https://www.ncbi.nlm.nih.gov/pubmed/36378562 http://dx.doi.org/10.1002/mgg3.2095

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