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 1;10(2):105-118. Epub 2016 Dec 15 PubMed.
Recommends
Please login to recommend the paper.
Comments
No Available Comments
Make a Comment
To make a comment you must login or register.