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

Barend F T BF Hogewind, Ronald J E RJ Pennings, Frans A FA Hol, Henricus P M HP Kunst, Elisabeth H EH Hoefsloot, Johannes R M JR Cruysberg, and Cor W R J CW Cremers

Audio, Transactions of the IRE Professional... (2010) PMID 20069065

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.

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