Seco, C. Z., Castells-Nobau, A., Joo, S., Schraders, M., Foo, J. N., van der Voet, M., Velan, S. S., Nijhof, B., Oostrik, J., de Vrieze, E., Katana, R., Mansoor, A., Huynen, M.
, Szklarczyk, R., Oti, M., Tranebjaerg, L., van Wijk, E., Scheffer-de Gooyert, J. M., Siddique, S., ... Siddiqi, S. (2017).
A homozygous FITM2 mutation causes a deafness-dystonia syndrome with motor regression and signs of ichthyosis and sensory neuropathy.
Disease Models & Mechanisms,
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https://doi.org/10.1242/dmm.026476