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The first case of deafness-dystonia syndrome due to compound heterozygous variants in FITM2.

Shakir A, Wadley AF, Purcarin G, Wierenga KJ. The first case of deafness-dystonia syndrome due to compound heterozygous variants in FITM2. Clin Case Rep. 2018 Sep; 6(9):1815-1817.

View in: PubMed