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Novel gene variants in Polish patients with Leber congenital amaurosis (LCA)
BACKGROUND: Leber congenital amaurosis (LCA) is a rare retinal disease that is the most frequent cause of congenital blindness in children and the most severe form of inherited retinal dystrophies. To date, 25 genes have been implicated in the pathogenesis of LCA. As gene therapy is becoming availab...
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| Publicado no: | Orphanet J Rare Dis |
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| Main Authors: | , , , |
| Formato: | Artigo |
| Idioma: | Inglês |
| Publicado em: |
BioMed Central
2020
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| Assuntos: | |
| Acesso em linha: | https://ncbi.nlm.nih.gov/pmc/articles/PMC7731562/ https://ncbi.nlm.nih.gov/pubmed/33308271 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/s13023-020-01634-y |
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