Seco, Celia Zazo ;
Castells-Nobau, Anna ;
Joo, Seol-hee...
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 , Baets , J , de Jonghe , P , Kazmi , S A R , Sadananthan , S A , van de Warrenburg , B P , Khor , C C , Goepfert , 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 , vol. 10 , no. 2 , pp. 105-118 . https://doi.org/10.1242/dmm.026476.
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2017
