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Article

Genetic and Clinical Characterization of TANGO2 Deficiency Disorder: Insights from the Italian Multicentre Cohort.

International journal of molecular sciences - 14 May 2026

Turco Emanuela Claudia, Pisanò Giulia, Caiazza Laura, Carestiato Silvia, Piccolo Benedetta, Fecarotta Simona, Pochiero Francesca, Ricci Federica, Brusco Alfredo, Ferrero Giovanni Battista, Esposito Susanna, Fusco Carlo, Pera Maria Carmela

Abstract excerpt

TANGO2-deficiency disorder (TDD) is a rare autosomal recessive condition characterised by neurodevelopmental delay, TANGO2 spells, life-threatening metabolic crises, and cardiac arrhythmias. Genotype-phenotype correlations remain poorly defined and the neurobehavioural profile of affected individuals is largely unexplored. We conducted a retrospective multicentre study of five Italian patients with genetically...

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Identifiers

PMID: 42196371
DOI: 10.3390/ijms27104389
PMCID: PMC13207614

Genes

TANGO2

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026.

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