A homozygous FITM2 mutation causes a deafness-dystonia syndrome with motor regression and signs of ichthyosis and sensory neuropathy

por Zazo Seco, Celia, Castells-Nobau, Anna, Joo, Seol-hee, Schraders, Margit, Foo, Jia Nee, van der Voet, Monique, Velan, S. Sendhil, Nijhof, Bonnie, Oostrik, Jaap, de Vrieze, Erik, Katana, Radoslaw, Mansoor, Atika, Huynen, Martijn, Szklarczyk, Radek, Oti, Martin, Tranebjærg, Lisbeth, van Wijk, Erwin, Scheffer-de Gooyert, Jolanda M., Siddique, Saadat, Baets, Jonathan, de Jonghe, Peter, Kazmi, Syed Ali Raza, Sadananthan, Suresh Anand, van de Warrenburg, Bart P., Khor, Chiea Chuen, Göpfert, Martin C., Qamar, Raheel, Schenck, Annette, Kremer, Hannie, Siddiqi, Saima
Publicado 2017