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Article

Clinical phenotype associated with variants in TANGO2: A case study.

Archives de pediatrie : organe officiel de la Societe francaise de pediatrie - 1 Aug 2023

Alghamdi Fouad, Alharbi Alanoud, Mohamed Fatema, Alghamdi Alaa, Bashir Shahid

Abstract excerpt

Transport and Golgi organization 2 (TANGO2) disease is a severe inherited disorder that presents with multiple symptoms and a broad spectrum of phenotypes, including metabolic crisis, encephalopathy, cardiac arrhythmia, and hypothyroidism. The clinical picture of a TANGO2 gene biallelic mutation involves encephalopathy and rhabdomyolysis and is marked by cardiac rhythm disorders and neurological regression. The...

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PMID: 37394363
DOI: 10.1016/j.arcped.2023.04.008

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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