Expanding the clinical and genetic spectrum of RHO-associated retinitis pigmentosa

The majority of cases of autosomal-dominant retinitis pigmentosa (adRP) are associated with rhodopsin (RHO) variants. More than 290 pathogenic variants responsible for 25%–30% of adRP cases have been identified to date. This retrospective report focuses on RHO and RP cases in the Brazilian populatio...

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Hlavní autoři:	Rebeca A. S. Amaral, Olivia A. Zin, Rosane G. Resende, Debora N. Moraes, Mariana V. Salles, Gabriela D. Rodrigues, Fabiana L. Motta, Juliana M. F. Sallum
Médium:	Artigo
Jazyk:	Inglês
Vydáno:	Frontiers Media S.A. 2026-02-01
Edice:	Experimental Biology and Medicine
Témata:	autosomal dominant genotype-phenotype retinal dystrophy retinitis pigmentosa rhodopsin
On-line přístup:	https://www.ebm-journal.org/articles/10.3389/ebm.2026.10893/full
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