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...
| Principais autores: | , , , , , |
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| Formato: | Artigo |
| Idioma: | English |
| Publicado em: |
Frontiers Media S.A.
2024-01-01
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| coleção: | Frontiers in Pediatrics |
| Assuntos: | |
| Acesso em linha: | https://www.frontiersin.org/articles/10.3389/fped.2024.1339664/full |