TY  - GEN
AU  - Zazo Seco,Celia
AU  - Castells-Nobau,Anna
AU  - Joo,Seol-Hee
AU  - Schraders,Margit
AU  - Foo,Jia Nee
AU  - van der Voet,Monique
AU  - Velan,S Sendhil
AU  - Nijhof,Bonnie
AU  - Oostrik,Jaap
AU  - de Vrieze,Erik
AU  - Katana,Radoslaw
AU  - Mansoor,Atika
AU  - Huynen,Martijn
AU  - Szklarczyk,Radek
AU  - Oti,Martin
AU  - Tranebjærg,Lisbeth
AU  - van Wijk,Erwin
AU  - Scheffer-de Gooyert,Jolanda M
AU  - Siddique,Saadat
AU  - Baets,Jonathan
AU  - de Jonghe,Peter
AU  - Kazmi,Syed Ali Raza
AU  - Sadananthan,Suresh Anand
AU  - van de Warrenburg,Bart P
AU  - Khor,Chiea Chuen
AU  - Göpfert,Martin C
AU  - Qamar,Raheel
AU  - Schenck,Annette
AU  - Kremer,Hannie
AU  - Siddiqi,Saima
TI  - A homozygous FITM2 mutation causes a deafness-dystonia syndrome with motor regression and signs of ichthyosis and sensory neuropathy
SN  - 1754-8411
PY  - 2017///1204
KW  - Adiposity
KW  - Animals
KW  - Audiometry, Pure-Tone
KW  - Base Sequence
KW  - Child
KW  - Codon, Nonsense
KW  - genetics
KW  - Deaf-Blind Disorders
KW  - blood
KW  - Disease Models, Animal
KW  - Drosophila Proteins
KW  - Drosophila melanogaster
KW  - Dystonia
KW  - Female
KW  - Gene Expression Regulation
KW  - Gene Knockdown Techniques
KW  - HEK293 Cells
KW  - Hearing Loss
KW  - Homozygote
KW  - Humans
KW  - Ichthyosis
KW  - complications
KW  - Intellectual Disability
KW  - Lipid Droplets
KW  - metabolism
KW  - Liver
KW  - Locomotion
KW  - Male
KW  - Membrane Proteins
KW  - Motor Activity
KW  - Mutation
KW  - Optic Atrophy
KW  - Pedigree
KW  - Sensory Receptor Cells
KW  - pathology
KW  - Exome Sequencing
KW  - Young Adult
N1  - Publication Type: Journal Article
UR  - https://doi.org/10.1242/dmm.026476
ER  -