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Article

Genetic Characteristics and Long-Term Follow-Up of Slovenian Patients with RPGR Retinal Dystrophy.

International journal of molecular sciences - 14 Feb 2023

Hadalin Vlasta, Buscarino Maša, Sajovic Jana, Meglič Andrej, Jarc-Vidmar Martina, Hawlina Marko, Volk Marija, Fakin Ana

Abstract excerpt

Genetic characteristics and a long-term clinical follow-up of 18 Slovenian retinitis pigmentosa GTPase regulator (RPGR) patients from 10 families with retinitis pigmentosa (RP) or cone/cone-rod dystrophy (COD/CORD) are reported. RP (eight families) was associated with two already known (p.(Ser407Ilefs*46) and p.(Glu746Argfs*23)) and five novel variants (c.1245+704_1415-2286del, p.(Glu660*), p.(Ala153Thr),...

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Identifiers

PMID: 36835250
DOI: 10.3390/ijms24043840
PMCID: PMC9958649

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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