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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Опубликовано в: :Front Cell Dev Biol
Главные авторы: Habibi, Imen, Falfoul, Yosra, Tran, Hoai Viet, El Matri, Khaled, Chebil, Ahmed, El Matri, Leila, Schorderet, Daniel F.
Формат: Artigo
Язык:Inglês
Опубликовано: Frontiers Media S.A. 2021
Предметы:
Cell and Developmental Biology
Online-ссылка:https://ncbi.nlm.nih.gov/pmc/articles/PMC7902019/
https://ncbi.nlm.nih.gov/pubmed/33634125
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.3389/fcell.2021.625560
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