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Paper Details

A homozygous FITM2 mutation causes a deafness-dystonia syndrome with motor regression and signs of ichthyosis and sensory neuropathy.
Dis Model Mech
16
2017
CG10671, Drosophila, Drosophila melanogaster, FITM1, FITM2, Fitm ortholog, c, cellular lipid, deafness-dystonia syndrome, disturbed sensory functions, hearing loss, human, ichthyosis, ichthyosis-like features, lipodystrophy, locomotor impairment, motor regression, sensory neuropathy, triglycerides
Author NameAffiliation
Martijn A HuynenCenter for Molecular and Biomolecular Informatics, Radboud University Medical Center
Chiea Chuen KhorGenome Institute of Singapore
Chiea Chuen KhorSingapore Eye Research Institute
Chiea Chuen KhorYong Loo Lin School of Medicine, National University of Singapore
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Release 1.2