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

• Hlavní autoři: Zuzana Kolkova (Autor), Peter Durdik (Autor), Veronika Holubekova (Autor), Anna Durdikova (Autor), Milos Jesenak (Autor), Peter Banovcin (Autor)
• Médium: Kniha
• Vydáno: Frontiers Media S.A., 2024-01-01T00:00:00Z.
• Témata: article
• On-line přístup: 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...