A novel deletion mutation in GUCY2D gene may be responsible for Leber congenital amaurosis-1 disease: A case report

PURPOSE: To investigate genetic mutation(s) underlying retinal degeneration in a male patient. METHODS: A seven-year-old male patient was referred to receive genetic counseling and molecular testing. Clinical examination was performed by slit-lamp examination and electroretinography (ERG). Molecular...

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Detalles Bibliográficos
Autores principales: Salehi Chaleshtori, Ahmad Reza, Garshasbi, Masoud, Salehi, Ali
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Elsevier 2019
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6896468/
https://www.ncbi.nlm.nih.gov/pubmed/31844802
http://dx.doi.org/10.1016/j.joco.2019.07.002

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6896468/
https://www.ncbi.nlm.nih.gov/pubmed/31844802
http://dx.doi.org/10.1016/j.joco.2019.07.002

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