Genetic and Clinical Profile of Retinopathies Due to Disease-Causing Variants in Leber Congenital Amaurosis (LCA)-Associated Genes in a Large German Cohort

To report the spectrum of Leber congenital amaurosis (LCA) associated genes in a large German cohort and to delineate their associated phenotype. Local databases were screened for patients with a clinical diagnosis of LCA and for patients with disease-causing variants in known LCA-associated genes i...

Descripción completa

Detalles Bibliográficos
Autores principales: Zobor, Ditta, Brühwiler, Britta, Zrenner, Eberhart, Weisschuh, Nicole, Kohl, Susanne
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2023
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10219005/
https://www.ncbi.nlm.nih.gov/pubmed/37240262
http://dx.doi.org/10.3390/ijms24108915

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10219005/
https://www.ncbi.nlm.nih.gov/pubmed/37240262
http://dx.doi.org/10.3390/ijms24108915

Ejemplares similares