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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Detalles Bibliográficos
Autores principales: Skorczyk-Werner, Anna, Niedziela, Zuzanna, Stopa, Marcin, Krawczyński, Maciej Robert
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2020
Materias:
Research
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7731562/
https://www.ncbi.nlm.nih.gov/pubmed/33308271
http://dx.doi.org/10.1186/s13023-020-01634-y

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7731562/
https://www.ncbi.nlm.nih.gov/pubmed/33308271
http://dx.doi.org/10.1186/s13023-020-01634-y

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