Novel mutation identified in Leber congenital amaurosis - a case report

BACKGROUND: Leber congenital amaurosis (LCA) is the earliest onset and the most severe form of all inherited retinal degenerative disorders, characterized by blindness, or severe visual impairment from birth, and typically exhibits clinical and genetic heterogeneity. Recently, 14 causative genes of...

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Detalles Bibliográficos
Autores principales: Sato, Shigeru, Morimoto, Takeshi, Tanaka, Sayaka, Hotta, Kikuko, Fujikado, Takashi, Tsujikawa, Motokazu, Nishida, Kohji
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2020
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7393846/
https://www.ncbi.nlm.nih.gov/pubmed/32736544
http://dx.doi.org/10.1186/s12886-020-01577-9

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7393846/
https://www.ncbi.nlm.nih.gov/pubmed/32736544
http://dx.doi.org/10.1186/s12886-020-01577-9

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