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

• Main Authors: Zuzana Kolkova (Author), Peter Durdik (Author), Veronika Holubekova (Author), Anna Durdikova (Author), Milos Jesenak (Author), Peter Banovcin (Author)
• Format: Book
• Published: Frontiers Media S.A., 2024-01-01T00:00:00Z.
• Subjects: article
• Online Access: Connect to this object online.

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...