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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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Dettagli Bibliografici
Pubblicato in:Sci Rep
Autori principali: 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.
Natura: Artigo
Lingua:Inglês
Pubblicazione: Nature Publishing Group UK 2021
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Accesso online:https://ncbi.nlm.nih.gov/pmc/articles/PMC7794345/
https://ncbi.nlm.nih.gov/pubmed/33420188
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/s41598-020-80400-3
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