@article{7f9a096a5de1430f981108809de04620,
title = "A homozygous FITM2 mutation causes a deafness-dystonia syndrome with motor regression and signs of ichthyosis and sensory neuropathy",
keywords = "FITM2, Lipid droplets, Drosophila, Hearing impairment, Motor development, Dystonia, ENDOPLASMIC-RETICULUM STRESS, LIPID DROPLET, FAT STORAGE, TRANSMEMBRANE PROTEIN-2, GENE-EXPRESSION, DROSOPHILA, METABOLISM, MORPHOLOGY, DISEASE, CELLS",
author = "Seco, {Celia Zazo} and Anna Castells-Nobau and Seol-hee Joo and Margit Schraders and Foo, {Jia Nee} and {van der Voet}, Monique and Velan, {S. Sendhil} and Bonnie Nijhof and Jaap Oostrik and {de Vrieze}, Erik and Radoslaw Katana and Atika Mansoor and Martijn Huynen and Radek Szklarczyk and Martin Oti and Lisbeth Tranebjaerg and {van Wijk}, Erwin and {Scheffer-de Gooyert}, {Jolanda M.} and Saadat Siddique and Jonathan Baets and {de Jonghe}, Peter and Kazmi, {Syed Ali Raza} and Sadananthan, {Suresh Anand} and {van de Warrenburg}, {Bart P.} and Khor, {Chiea Chuen} and Goepfert, {Martin C.} and Raheel Qamar and Annette Schenck and Hannie Kremer and Saima Siddiqi",
year = "2017",
month = feb,
day = "1",
doi = "10.1242/dmm.026476",
language = "English",
volume = "10",
pages = "105--118",
journal = "Disease Models & Mechanisms",
issn = "1754-8403",
publisher = "Company of Biologists Ltd",
number = "2",
}