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

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

https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_proquest_miscellaneous_2860404736

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

About this item

Full title

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

Publisher

England: BMJ Publishing Group Ltd

Journal title

Journal of medical genetics, 2024-02, Vol.61 (2), p.171-175

Language

English

Formats

Publication information

Publisher

England: BMJ Publishing Group Ltd

More information

Scope and Contents

Contents

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...

Alternative Titles

Full title

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

Identifiers

Primary Identifiers

Record Identifier

TN_cdi_proquest_miscellaneous_2860404736

Permalink

https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_proquest_miscellaneous_2860404736

Other Identifiers

ISSN

0022-2593,1468-6244

E-ISSN

1468-6244

DOI

10.1136/jmg-2023-109455

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