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First replication that biallelic variants in FITM2 cause a complex deafness-dystonia syndrome.

Mov. Disord. 33, 1665-1666 (2018)
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Open Access Green as soon as Postprint is submitted to ZB.
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Publication type Article: Journal article
Document type Letter to the Editor
Keywords Fitm2 ; Dystonia ; Deafness ; Hyperkeratosis ; Exome
Reviewing status