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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Principais autores:	Zuzana Kolkova, Peter Durdik, Veronika Holubekova, Anna Durdikova, Milos Jesenak, Peter Banovcin
Formato:	Artigo
Idioma:	Inglês
Publicado em:	Frontiers Media S.A. 2024-01-01
Colecção:	Frontiers in Pediatrics
Assuntos:	RPGR gene mutation retinitis pigmentosa primary ciliary dyskinesia X-linked inheritance
Acesso em linha:	https://www.frontiersin.org/articles/10.3389/fped.2024.1339664/full
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