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Article

NGS identifies TAZ mutation in a family with X-linked dilated cardiomyopathy.

BMJ case reports - 22 Jan 2013

Man Elim, Lafferty Katherine A, Funke Birgit H, Lun Kin-Shing, Chan Shu-Yan, Chau Adolphus Kai-Tung, Chung Brian Hon-Yin

Abstract excerpt

We reported a family with two male siblings affected with infantile dilated cardiomyopathy (DCM). Extensive evaluation failed to identify the underlying cause for the DCM. Next generation sequencing (NGS) with targeted enrichment identified a hemizygous variant c.718G>C (p.Gly240Arg) in the TAZ g...

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Identifiers

PMID: 23345479
DOI: 10.1136/bcr-2012-007529
PMCID: PMC3604426

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 4 Sept 2026. Prepared record publication-23345479-2026-09-04.2. Manifest publication-graph-cohort-2026-09-04.2.

Source receipt: PubMed via Helena Literature Corpus, retrieved 4 Sept 2026.

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