Identification of p.A684V missense mutation in the WFS1 gene as a frequent cause of autosomal dominant optic atrophy and hearing impairment

Nanna D Rendtorff, Marianne Lodahl, Houda Boulahbel, Ida R Johansen, Arti Pandya, Katherine O Welch, Virginia W Norris, Kathleen S Arnos, Maria Bitner-Glindzicz, Sarah B Emery, Marilyn B Mets, Toril Fagerheim, Kristina Eriksson, Lars Hansen, Helene Bruhn, Claes Möller, Sture Lindholm, Stefan Ensgaard, Marci M Lesperance, Lisbeth Tranebjaerg