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Clinical Features and Genetic Findings of Autosomal Recessive Bestrophinopathy

Autosomal recessive bestrophinopathy (ARB) is a rare subtype of bestrophinopathy caused by biallelic mutations of the BEST1 gene. ARB is characterized by multifocal subretinal deposits accompanied by macular edema or subretinal fluid, hyperopia, co-existing narrow angle, and a marked decrease in ele...

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Detalles Bibliográficos
Autores principales:	Kim, Hae Rang, Han, Jinu, Kim, Yong Joon, Kang, Hyun Goo, Byeon, Suk Ho, Kim, Sung Soo, Lee, Christopher Seungkyu
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	MDPI 2022
Materias:	Article
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9320462/ https://www.ncbi.nlm.nih.gov/pubmed/35885980 http://dx.doi.org/10.3390/genes13071197

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