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Identification of novel X-linked gain-of-function RPGR-ORF15 mutation in Italian family with retinitis pigmentosa and pathologic myopia

The aim of this study was to describe a new pathogenic variant in the mutational hot spot exon ORF15 of retinitis pigmentosa GTPase regulator (RPGR) gene within an Italian family with X-linked retinitis pigmentosa (RP), detailing its distinctive genotype-phenotype correlation with pathologic myopia...

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Detalles Bibliográficos
Autores principales:	Parmeggiani, Francesco, Barbaro, Vanessa, De Nadai, Katia, Lavezzo, Enrico, Toppo, Stefano, Chizzolini, Marzio, Palù, Giorgio, Parolin, Cristina, Di Iorio, Enzo
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	Nature Publishing Group 2016
Materias:	Article
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5171904/ https://www.ncbi.nlm.nih.gov/pubmed/27995965 http://dx.doi.org/10.1038/srep39179

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