Phenocopy of a heterozygous carrier of X-linked retinitis pigmentosa due to mosaicism for a RHO variant

We describe both phenotype and pathogenesis in two male siblings with typical retinitis pigmentosa (RP) and the potentially X-linked RP (XLRP) carrier phenotype in their mother. Two affected sons, two unaffected daughters, and their mother underwent detailed ophthalmological assessments including Go...

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Detalles Bibliográficos
Autores principales: Strubbe, Ine, Van Cauwenbergh, Caroline, De Zaeytijd, Julie, De Jaegere, Sarah, De Bruyne, Marieke, Rosseel, Toon, Van de Sompele, Stijn, De Baere, Elfride, Leroy, Bart P.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Nature Publishing Group UK 2021
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7794345/
https://www.ncbi.nlm.nih.gov/pubmed/33420188
http://dx.doi.org/10.1038/s41598-020-80400-3

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7794345/
https://www.ncbi.nlm.nih.gov/pubmed/33420188
http://dx.doi.org/10.1038/s41598-020-80400-3

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