<i>PRPH2</i>-Related Retinal Diseases: Broadening the Clinical Spectrum and Describing a New Mutation

<i>PRPH2</i>-Related Retinal Diseases: Broadening the Clinical Spectrum and Describing a New Mutation

Over 175 pathogenic mutations in the Peripherin-2 (<i>PRPH2)</i> gene are linked to various retinal diseases. We report the phenotype and genotype of eight families (24 patients) with retinal diseases associated with seven distinct <i>PRPH2</i> gene mutations. We identified a...

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Bibliographic Details
Main Authors: Rosa M. Coco-Martin, Hortensia T. Sanchez-Tocino, Carmen Desco, Ricardo Usategui-Martín, Juan J. Tellería
Format: Article
Language:English
Published: MDPI AG 2020-07-01
Series:Genes
Subjects:
<i>PRPH2</i>
<i>ABCA4</i>
AVMD
pattern dystrophy simulating FF
extensive chorioretinal atrophy
CACD
Online Access:https://www.mdpi.com/2073-4425/11/7/773

Internet

https://www.mdpi.com/2073-4425/11/7/773

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