Rare genetic variants in MEPE cause congenital facial paresis with stapes fixation, and are associated with otosclerosis
Huentelman, M. J.; Valgaeren, H.; Schrauwen, I.; Tomas-Roca, L.; Wesdorp, M.; Sommen, M.; Rahmouni, M.; van Beusekom, E.; Offeciers, E.; dHooghe, I.; Vincent, R.; Huber, A.; Van de Heyning, P.; Zanetti, D.; De Leenheer, E. M. R.; Gilissen, C.; Cremers, C. W.; Verbist, B.; de Brouwer, A. P. M.; Padberg, G. W.; Kremer, H.; Van Camp, G.; van Bokhoven, H.; Altunoglu, U.