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Intrafamilial Variability in 2 Siblings With TANGO2-Related Disorder

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Journal of Child Neurology

Published online on

Abstract

Journal of Child Neurology, Ahead of Print.
BackgroundTANGO2-related disorder (TDD) is a rare autosomal recessive condition characterized by episodic metabolic crises, rhabdomyolysis, encephalopathy, and life-threatening cardiac arrhythmias, with marked phenotypic variability that often contributes ...