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...

Cijeli opis

Spremljeno u:
Bibliografski detalji
Izdano u:Front Cell Dev Biol
Glavni autori: Habibi, Imen, Falfoul, Yosra, Tran, Hoai Viet, El Matri, Khaled, Chebil, Ahmed, El Matri, Leila, Schorderet, Daniel F.
Format: Artigo
Jezik:Inglês
Izdano: Frontiers Media S.A. 2021
Teme:
Cell and Developmental Biology
Online pristup: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
Oznake: Dodaj oznaku
Bez oznaka, Budi prvi tko označuje ovaj zapis!

Similar Items