Zazo Seco, Celia <br/><br/>
A homozygous FITM2 mutation causes a deafness-dystonia syndrome with motor regression and signs of ichthyosis and sensory neuropathy.  [electronic resource] 

 -  Disease models & mechanisms  02 2017 
 - 105-118 p.  digital 
<br/><br/> Publication Type: Journal Article 
<br/><br/><label>ISSN: </label>1754-8411 
<br/><br/><label>Standard No.: </label>10.1242/dmm.026476  doi 
<br/><br/><label>Subjects--Topical Terms: </label><br/>Adiposity<br/>Animals<br/>Audiometry, Pure-Tone<br/>Base Sequence<br/>Child<br/>Codon, Nonsense--genetics<br/>Deaf-Blind Disorders--blood<br/>Disease Models, Animal<br/>Drosophila Proteins--genetics<br/>Drosophila melanogaster--genetics<br/>Dystonia--blood<br/>Female<br/>Gene Expression Regulation<br/>Gene Knockdown Techniques<br/>HEK293 Cells<br/>Hearing Loss--genetics<br/>Homozygote<br/>Humans<br/>Ichthyosis--complications<br/>Intellectual Disability--blood<br/>Lipid Droplets--metabolism<br/>Liver--metabolism<br/>Locomotion<br/>Male<br/>Membrane Proteins--genetics<br/>Motor Activity<br/>Mutation--genetics<br/>Optic Atrophy--blood<br/>Pedigree<br/>Sensory Receptor Cells--pathology<br/>Exome Sequencing<br/>Young Adult