Clinical Evidence for the Importance of the Wild-Type <i>PRPF31</i> Allele in the Phenotypic Expression of RP11

Clinical Evidence for the Importance of the Wild-Type <i>PRPF31</i> Allele in the Phenotypic Expression of RP11

<i>PRPF31</i>-associated retinopathy (RP11) is a common form of autosomal dominant retinitis pigmentosa (adRP) that exhibits wide variation in phenotype ranging from non-penetrance to early-onset RP. Herein, we report inter-familial and intra-familial variation in the natural history of...

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Bibliographic Details
Main Authors: Danial Roshandel, Jennifer A. Thompson, Rachael C. Heath Jeffery, Dan Zhang, Tina M. Lamey, Terri L. McLaren, John N. De Roach, Samuel McLenachan, David A. Mackey, Fred K. Chen
Format: Article
Language:English
Published: MDPI AG 2021-06-01
Series:Genes
Subjects:
retinitis pigmentosa
<i>PRPF31</i>
RP11
natural history
multimodal imaging
microperimetry
Online Access:https://www.mdpi.com/2073-4425/12/6/915

Internet

https://www.mdpi.com/2073-4425/12/6/915

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