Clinical phenotype associated with TANGO2 gene mutation
Author:
Publisher
Elsevier BV
Subject
Pediatrics, Perinatology and Child Health
Reference11 articles.
1. Next-generation sequencing in diagnostic pathology;Ilyas;Pathobiology,2017
2. Recurrent muscle weakness with rhabdomyolysis, metabolic crises, and cardiac arrhythmia due to Bi-allelic TANGO2 mutations;Lalani;Am J Hum Genet,2016
3. Bi-allelic truncating mutations in TANGO2 cause infancy-onset recurrent metabolic crises with encephalocardiomyopathy;Kremer;Am J Hum Genet,2016
4. TANGO2: expanding the clinical phenotype and spectrum of pathogenic variants;Dines;Gen Med,2019
5. TANGO2 deficiency as a cause of neurodevelopmental delay with indirect effects on mitochondrial energy metabolism;Jennions;J Inherit Metab Dis,2019
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