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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...
| Autores principales: | , , |
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| Formato: | Online Artículo Texto |
| Lenguaje: | English |
| Publicado: |
Elsevier
2019
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| 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 |