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Article

A Novel Arg120Pro Mutation in the RP2 Gene in an Iranian Family with X-linked Retinitis Pigmentosa: A Case Report.

Iranian journal of medical sciences - 1 Nov 2023

Mansouri Nasrin, Darabi Parichehr, Favaedi Masoumeh, Faizmahdavi Hanieh, Nankali Soheila, Assefi Marjan, Sharafshah Alireza, Omarmeli Vahid

Abstract excerpt

As the most common type of inherited retinal degenerative disease, retinitis pigmentosa (RP) has taken clinical and prenatal attention. Considering the clinical importance of consanguineous marriages, new mutations in this type of pregnancy have a high risk and increase the importance of Prenatal Diagnosis (PND). In vitro analysis was done through Whole Exome Sequencing (WES) for a 36-year-old woman who was...

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Identifiers

PMID: 38094283
DOI: 10.30476/IJMS.2022.96392.2792
PMCID: PMC10715112

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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