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...

Descripció completa

Guardat en:
Dades bibliogràfiques
Publicat a:Front Cell Dev Biol
Autors principals: Habibi, Imen, Falfoul, Yosra, Tran, Hoai Viet, El Matri, Khaled, Chebil, Ahmed, El Matri, Leila, Schorderet, Daniel F.
Format: Artigo
Idioma:Inglês
Publicat: Frontiers Media S.A. 2021
Matèries:
Cell and Developmental Biology
Accés en línia: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
Etiquetes: Afegir etiqueta
Sense etiquetes, Sigues el primer a etiquetar aquest registre!

Ítems similars