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TANGO2: expanding the clinical phenotype and spectrum of pathogenic variants

20 Sept 2018

Abstract excerpt

PURPOSE: TANGO2-related disorders were first described in 2016 and prior to this publication, only 15 individuals with TANGO2-related disorder were described in the literature. Primary features include metabolic crisis with rhabdomyolysis, encephalopathy, intellectual disability, seizures, and cardiac arrhythmias. We assess whether genotype and phenotype of TANGO2-related disorder has expanded since the initial...

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PMID: 30245509
DOI: 10.1038/s41436-018-0137-y

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