A homozygous FITM2 mutation causes a deafness-dystonia syndrome with motor regression and signs of ichthyosis and sensory neuropathy
scientific article published on 15 December 2016
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author: Anna Castells-Nobau, Jia Nee Foo, Monique van der Voet, S. Sendhil Velan, Martijn A Huynen, Syed Ali Raza Kazmi, Chiea Chuen Khor, Annette Schenck, Hannie Kremer, Saima Siddiqi, Radek Szklarczyk, Margit Schraders, Jaap Oostrik, Bart Petrus Christoffel van de Warrenburg
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