Different Phenotypes in Pseudodominant Inherited Retinal Dystrophies

Different Phenotypes in Pseudodominant Inherited Retinal Dystrophies

Retinal dystrophies (RD) are a group of Mendelian disorders caused by rare genetic variations leading to blindness. A pathogenic variant may manifest in both dominant or recessive mode and clinical and genetic heterogeneity makes it difficult to establish a precise diagnosis. In this study, families...

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Bibliographic Details
Main Authors: Imen Habibi, Yosra Falfoul, Hoai Viet Tran, Khaled El Matri, Ahmed Chebil, Leila El Matri, Daniel F. Schorderet
Format: Article
Language:English
Published: Frontiers Media S.A. 2021-02-01
Series:Frontiers in Cell and Developmental Biology
Subjects:
retinal dystrophies
whole exome sequencing
pathogenic variants
pseudodominant inheritance
retinitis pigmentosa
Online Access:https://www.frontiersin.org/articles/10.3389/fcell.2021.625560/full

Internet

https://www.frontiersin.org/articles/10.3389/fcell.2021.625560/full

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