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Article

A novel mutation of the TAZ gene in Barth syndrome: acute exacerbation after contrast-dye injection.

Journal of Korean medical science - 1 May 2013

Kim Gi Beom, Kwon Bo Sang, Bae Eun Jung, Noh Chung Il, Seong Moon-Woo, Park Sung Sup

Abstract excerpt

A 14-month-old boy was transferred because of dilated and hypertrophied left ventricle, neutropenia, and developmental delay. After checking computed tomographic angiography with contrast-dye, the patient showed acute exacerbation and finally died from multi-organ failure despite intensive cares. From genetic analysis, we revealed that the patient had Barth syndrome and found a novel hemizygous frame shift...

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Identifiers

PMID: 23678274
DOI: 10.3346/jkms.2013.28.5.784
PMCID: PMC3653095

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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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