Autosomal Recessive Rod-Cone Dystrophy Associated With Compound Heterozygous Variants in ARL3 Gene

Purpose: ARL3 (ADP-ribosylation factor-like 3) variants cause autosomal dominant retinitis pigmentosa (RP) or autosomal recessive Joubert syndrome. We found a family with rod-cone dystrophy (RCD) and verified it was associated with compound heterozygous variants in ARL3 gene. Methods: Ophthalmic exa...

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Publicado en:Front Cell Dev Biol
Autores principales: Fu, Leming, Li, Ya, Yao, Shun, Guo, Qingge, You, Ya, Zhu, Xianjun, Lei, Bo
Formato: Artigo
Lenguaje:Inglês
Publicado: Frontiers Media S.A. 2021
Materias:
Cell and Developmental Biology
Acceso en línea:https://ncbi.nlm.nih.gov/pmc/articles/PMC7969994/
https://ncbi.nlm.nih.gov/pubmed/33748123
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.3389/fcell.2021.635424
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