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Zazo Seco C, Castells-Nobau A, Joo SH, et al. A homozygous FITM2 mutation causes a deafness-dystonia syndrome with motor regression and signs of ichthyosis and sensory neuropathy. Dis Model Mech. 2016;10(2):105-118doi: 10.1242/dmm.026476.
Zazo Seco, C., Castells-Nobau, A., Joo, S. H., 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., Tranebjærg, L., van Wijk, E., Scheffer-de Gooyert, J. M., Siddique, S., Baets, J., de Jonghe, P., Kazmi, S. A., Sadananthan, S. A., van de Warrenburg, B. P., Khor, C. C., Göpfert, M. C., Qamar, R., Schenck, A., Kremer, H., & 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, 10(2), 105-118. https://doi.org/10.1242/dmm.026476
Zazo Seco, Celia, et al. "A homozygous FITM2 mutation causes a deafness-dystonia syndrome with motor regression and signs of ichthyosis and sensory neuropathy." Disease models & mechanisms vol. 10,2 (2017): 105-118. doi: https://doi.org/10.1242/dmm.026476
Zazo Seco C, Castells-Nobau A, Joo SH, Schraders M, Foo JN, van der Voet M, Velan SS, Nijhof B, Oostrik J, de Vrieze E, Katana R, Mansoor A, Huynen M, Szklarczyk R, Oti M, Tranebjærg L, van Wijk E, Scheffer-de Gooyert JM, Siddique S, Baets J, de Jonghe P, Kazmi SA, Sadananthan SA, van de Warrenburg BP, Khor CC, Göpfert MC, Qamar R, Schenck A, Kremer H, Siddiqi S. A homozygous FITM2 mutation causes a deafness-dystonia syndrome with motor regression and signs of ichthyosis and sensory neuropathy. Dis Model Mech. 2017 Feb 01;10(2):105-118. doi: 10.1242/dmm.026476. Epub 2016 Dec 15. PMID: 28067622; PMCID: PMC5312003.
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