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

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

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 Di...

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Bibliographic Details
Main Authors: Nasrin Mansouri, Parichehr Darabi, Masoumeh Favaedi, Hanieh Faizmahdavi, Soheila Nankali, Marjan Assefi, Alireza Sharafshah, Vahid Omarmeli
Format: Article
Language:English
Published: Shiraz University of Medical Sciences 2023-11-01
Series:Iranian Journal of Medical Sciences
Subjects:
whole exome sequencing
retinitis pigmentosa
mutation
Online Access:https://ijms.sums.ac.ir/article_49284_be79baa2bbed2c407b74137ad6152c43.pdf

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