Identification of a novel RPGR mutation associated with retinitis pigmentosa and primary ciliary dyskinesia in a Slovak family: a case report

Identification of a novel RPGR mutation associated with retinitis pigmentosa and primary ciliary dyskinesia in a Slovak family: a case report

BackgroundThe mutations in the RPGR (retinitis pigmentosa GTPase regulator) gene are the most common cause of X-linked retinitis pigmentosa (XLRP), a rare genetic disorder affecting the photoreceptor cells in the retina. Several reported cases identified this gene as a genetic link between retinitis...

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Bibliographic Details
Main Authors: Zuzana Kolkova, Peter Durdik, Veronika Holubekova, Anna Durdikova, Milos Jesenak, Peter Banovcin
Format: Article
Language:English
Published: Frontiers Media S.A. 2024-01-01
Series:Frontiers in Pediatrics
Subjects:
RPGR gene
mutation
retinitis pigmentosa
primary ciliary dyskinesia
X-linked inheritance
Online Access:https://www.frontiersin.org/articles/10.3389/fped.2024.1339664/full

Internet

https://www.frontiersin.org/articles/10.3389/fped.2024.1339664/full

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