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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Bibliografski detalji

Glavni autori:	Imen Habibi, Yosra Falfoul, Hoai Viet Tran, Khaled El Matri, Ahmed Chebil, Leila El Matri, Daniel F. Schorderet
Format:	Artigo
Jezik:	Inglês
Izdano:	Frontiers Media S.A. 2021-02-01
Serija:	Frontiers in Cell and Developmental Biology
Teme:	retinal dystrophies whole exome sequencing pathogenic variants pseudodominant inheritance retinitis pigmentosa
Online pristup:	https://www.frontiersin.org/articles/10.3389/fcell.2021.625560/full
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