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Article

TBX20 loss-of-function variants in families with left ventricular non-compaction cardiomyopathy.

Journal of medical genetics - 19 Jan 2024

Chang Yuchen, Wacker Julie, Ingles Jodie, Macciocca Ivan, King Ingrid, Semsarian Christopher, McGaughran Julie, Weintraub Robert G, Bagnall Richard D

Abstract excerpt

TBX20 encodes a cardiac transcription factor that is associated with atrial septal defects. Recent studies implicate loss-of-function TBX20 variants with left ventricular non-compaction cardiomyopathy (LVNC), although clinical and genetic data in families are limited. We report four families with TBX20 loss-of-function variants that segregate with LVNC. Genetic testing using genome or exome sequencing was...

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Identifiers

PMID: 37657916
DOI: 10.1136/jmg-2023-109455

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 3 Sept 2026.

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