Retrospective Natural History Study of RPGR-Related Cone- and Cone-Rod Dystrophies While Expanding the Mutation Spectrum of the Disease

Variants in the X-linked retinitis pigmentosa GTPase regulator gene (RPGR) and, specifically, in its retinal opening reading frame-15 isoform (RPGR(ORF15)) may cause rod-cone (RCD), cone, and cone-rod dystrophies (CDs and CRDs). While RPGR-related RCDs have been frequently evaluated, the characteris...

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Detalles Bibliográficos
Autores principales: Nassisi, Marco, De Bartolo, Giuseppe, Mohand-Said, Saddek, Condroyer, Christel, Antonio, Aline, Lancelot, Marie-Elise, Bujakowska, Kinga, Smirnov, Vasily, Pugliese, Thomas, Neidhardt, John, Sahel, José-Alain, Zeitz, Christina, Audo, Isabelle
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2022
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9266815/
https://www.ncbi.nlm.nih.gov/pubmed/35806195
http://dx.doi.org/10.3390/ijms23137189

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9266815/
https://www.ncbi.nlm.nih.gov/pubmed/35806195
http://dx.doi.org/10.3390/ijms23137189

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