A novel compound heterozygous BEST1 gene mutation in two siblings causing autosomal recessive bestrophinopathy

PURPOSE: To describe the clinical features, imaging characteristics, and genetic test results associated with a novel compound heterozygous mutation of the BEST1 gene in two siblings with autosomal recessive bestrophinopathy. METHODS: Two siblings underwent a complete ophthalmic examination, includi...

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Detalles Bibliográficos
Autores principales: Haque, Obaid Imtiyazul, Chandrasekaran, Anbukayalvizhi, Nabi, Faisal, Ahmad, Owais, Marques, João Pedro, Ahmad, Tanweer
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2022
Materias:
Research
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9756692/
https://www.ncbi.nlm.nih.gov/pubmed/36527004
http://dx.doi.org/10.1186/s12886-022-02703-5

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9756692/
https://www.ncbi.nlm.nih.gov/pubmed/36527004
http://dx.doi.org/10.1186/s12886-022-02703-5

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