Spectrum of Disease Severity in Patients With X-Linked Retinitis Pigmentosa Due to RPGR Mutations

PURPOSE: The purpose of this study was to perform a detailed longitudinal phenotyping of X-linked retinitis pigmentosa (RP) caused by mutations in the RPGR gene during a long follow-up period. METHODS: An Italian cohort of 48 male patients (from 31 unrelated families) with RPGR-associated RP was cli...

ver descrição completa

Na minha lista:
Detalhes bibliográficos
Publicado no:Invest Ophthalmol Vis Sci
Main Authors: Di Iorio, Valentina, Karali, Marianthi, Melillo, Paolo, Testa, Francesco, Brunetti-Pierri, Raffaella, Musacchia, Francesco, Condroyer, Christel, Neidhardt, John, Audo, Isabelle, Zeitz, Christina, Banfi, Sandro, Simonelli, Francesca
Formato: Artigo
Idioma:Inglês
Publicado em: The Association for Research in Vision and Ophthalmology 2020
Assuntos:
Retina
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC7774109/
https://ncbi.nlm.nih.gov/pubmed/33372982
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1167/iovs.61.14.36
Tags: Adicionar Tag
Sem tags, seja o primeiro a adicionar uma tag!

Registos relacionados