Phenotypic and Genetic Spectrum of Autosomal Recessive Bestrophinopathy and Best Vitelliform Macular Dystrophy

PURPOSE: Autosomal recessive bestrophinopathy (ARB) and vitelliform macular dystrophy (VMD) are distinct phenotypes, typically inherited through recessive and dominant patterns, respectively. Recessively inherited VMD (arVMD) has been reported, suggesting that dominant and recessive BEST1-related re...

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Detalles Bibliográficos
Autores principales: Pfister, Tyler A., Zein, Wadih M., Cukras, Catherine A., Sen, Hatice N., Maldonado, Ramiro S., Huryn, Laryssa A., Hufnagel, Robert B.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: The Association for Research in Vision and Ophthalmology 2021
Materias:
Genetics
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8142704/
https://www.ncbi.nlm.nih.gov/pubmed/34015078
http://dx.doi.org/10.1167/iovs.62.6.22

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