The importance of genetic testing as demonstrated by two cases of CACNA1F-associated retinal generation misdiagnosed as LCA

PURPOSE: To describe in detail cases with an initial diagnosis of Leber congenital amaurosis that were later found to have a hemizygous mutation in the CACNA1F gene. METHODS: The patients underwent a detailed ophthalmological evaluation and full-field electroretinography (ERG). Selective targeted ca...

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Detalles Bibliográficos
Autores principales: Men, Clara J., Bujakowska, Kinga M., Comander, Jason, Place, Emily, Bedoukian, Emma C., Zhu, Xiaosong, Leroy, Bart P., Fulton, Anne B., Pierce, Eric A.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Molecular Vision 2017
Materias:
Research Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5640518/
https://www.ncbi.nlm.nih.gov/pubmed/29062221

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5640518/
https://www.ncbi.nlm.nih.gov/pubmed/29062221

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