Molecular background of Leber congenital amaurosis in a Polish cohort of patients—novel variants discovered by NGS

Leber congenital amaurosis (LCA) is the most severe form of inherited retinal dystrophies and the most frequent cause of congenital blindness in children. To date, 25 genes have been implicated in the pathogenesis of this rare disorder. Performing an accurate molecular diagnosis is crucial as gene t...

Descripción completa

Detalles Bibliográficos
Autores principales: Skorczyk-Werner, Anna, Sowińska-Seidler, Anna, Wawrocka, Anna, Walczak-Sztulpa, Joanna, Krawczyński, Maciej Robert
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Springer Berlin Heidelberg 2022
Materias:
Human Genetics • Original Paper
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9837007/
https://www.ncbi.nlm.nih.gov/pubmed/36369640
http://dx.doi.org/10.1007/s13353-022-00733-9

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9837007/
https://www.ncbi.nlm.nih.gov/pubmed/36369640
http://dx.doi.org/10.1007/s13353-022-00733-9

Ejemplares similares