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...
Gorde:
| Egile Nagusiak: | , , , , , |
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| Formatua: | Artigo |
| Hizkuntza: | Inglês |
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Frontiers Media S.A.
2024-01-01
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| Saila: | Frontiers in Pediatrics |
| Gaiak: | |
| Sarrera elektronikoa: | https://www.frontiersin.org/articles/10.3389/fped.2024.1339664/full |
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