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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...
| Autores principales: | , , , , |
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| Formato: | Online Artículo Texto |
| Lenguaje: | English |
| Publicado: |
Springer Berlin Heidelberg
2022
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| Materias: | |
| 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 |