Autosomal dominant optic neuropathy and sensorineual hearing loss associated with a novel mutation of WFS1

PURPOSE: To describe the phenotype of a novel Wolframin (WFS1) mutation in a family with autosomal dominant optic neuropathy and deafness. The study is designed as a retrospective observational case series. METHODS: Seven members of a Dutch family underwent ophthalmological, otological, and genetica...

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Detalles Bibliográficos
Autores principales: Hogewind, Barend F.T., Pennings, Ronald J.E., Hol, Frans A., Kunst, Henricus P.M., Hoefsloot, Elisabeth H., Cruysberg, Johannes R.M., Cremers, Cor W.R.J.
Formato: Texto
Lenguaje:English
Publicado: Molecular Vision 2010
Materias:
Research Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC2805421/
https://www.ncbi.nlm.nih.gov/pubmed/20069065

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