Familial Wolfram syndrome due to compound heterozygosity for two novel WFS1 mutations

PURPOSE: To describe the first instance of genotyping in a Latin American family with Wolfram syndrome (WS). METHODS: Four affected siblings and their healthy parents were studied. Ophthalmologic examination included best corrected visual acuity determination, funduscopy, fluorescein retinal angiogr...

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Detalles Bibliográficos
Autores principales: Zenteno, Juan Carlos, Ruiz, Gabriela, Pérez-Cano, Hector J., Camargo, Mayra
Formato: Texto
Lenguaje:English
Publicado: Molecular Vision 2008
Materias:
Research Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC2483297/
https://www.ncbi.nlm.nih.gov/pubmed/18660851

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC2483297/
https://www.ncbi.nlm.nih.gov/pubmed/18660851

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