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Mutations in the phospholipid remodeling gene SERAC1 cause MEGDEL syndrome

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  • Relevant conflicts of interest/financial disclosures: Nothing to report.

  • Wortmann SB, Vaz FM, Gardeitchik T, et al. Mutations in the phospholipid remodeling gene SERAC1 impair mitochondrial function and intracellular cholesterol trafficking and cause dystonia and deafness. Nat Genet. 2012;44:797–802.

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