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PubMed (cited) for id: 618635
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First replication that biallelic variants in FITM2 cause a complex deafness-dystonia syndrome.
Mov Disord. 2018 Oct;33(10):1665-1666. doi: 10.1002/mds.27481. Epub 2018 Oct 4.
Mov Disord. 2018.
PMID: 30288795
No abstract available.
The first case of deafness-dystonia syndrome due to compound heterozygous variants in FITM2.
Shakir A, Wadley AF, Purcarin G, Wierenga KJ.
Shakir A, et al.
Clin Case Rep. 2018 Jul 26;6(9):1815-1817. doi: 10.1002/ccr3.1719. eCollection 2018 Sep.
Clin Case Rep. 2018.
PMID: 30214770
Free PMC article.
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A homozygous FITM2 mutation causes a deafness-dystonia syndrome with motor regression and signs of ichthyosis and sensory neuropathy.
Zazo Seco C, Castells-Nobau A, Joo SH, Schraders M, Foo JN, van der Voet M, Velan SS, Nijhof B, Oostrik J, de Vrieze E, Katana R, Mansoor A, Huynen M, Szklarczyk R, Oti M, Tranebjærg L, van Wijk E, Scheffer-de Gooyert JM, Siddique S, Baets J, de Jonghe P, Kazmi SA, Sadananthan SA, van de Warrenburg BP, Khor CC, Göpfert MC, Qamar R, Schenck A, Kremer H, Siddiqi S.
Zazo Seco C, et al.
Dis Model Mech. 2017 Feb 1;10(2):105-118. doi: 10.1242/dmm.026476. Epub 2016 Dec 15.
Dis Model Mech. 2017.
PMID: 28067622
Free PMC article.
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