A ROD–CONE DYSTROPHY IS SYSTEMATICALLY ASSOCIATED TO THE RTN4IP1 RECESSIVE OPTIC ATROPHY

PURPOSE: RTN4IP1 biallelic mutations cause a recessive optic atrophy, sometimes associated to more severe neurological syndromes, but so far, no retinal phenotype has been reported in RTN4IP1 patients, justifying their reappraisal. METHODS: Seven patients from four families carrying biallelic RTN4IP...

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Detalles Bibliográficos
Publicado en:Retina
Main Authors: Meunier, Isabelle, Bocquet, Béatrice, Charif, Majida, Dhaenens, Claire-Marie, Manes, Gael, Amati-Bonneau, Patrizia, Roubertie, Agathe, Zanlonghi, Xavier, Lenaers, Guy
Formato: Artigo
Idioma:Inglês
Publicado: Retina 2021
Assuntos:
Original Study
Acceso en liña:https://ncbi.nlm.nih.gov/pmc/articles/PMC8297537/
https://ncbi.nlm.nih.gov/pubmed/33315831
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1097/IAE.0000000000003054
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