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Missense mutations in the CITED2 gene may contribute to congenital heart disease

Missense mutations in the CITED2 gene may contribute to congenital heart disease

https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_doaj_primary_oai_doaj_org_article_73e9141414fa4f15b8d11271faa1e586

Missense mutations in the CITED2 gene may contribute to congenital heart disease

About this item

Full title

Missense mutations in the CITED2 gene may contribute to congenital heart disease

Publisher

England: BioMed Central Ltd

Journal title

BMC cardiovascular disorders, 2024-09, Vol.24 (1), p.516-10, Article 516

Language

English

Formats

Publication information

Publisher

England: BioMed Central Ltd

More information

Scope and Contents

Contents

Congenital heart disease (CHD) is a lifelong abnormality present from birth. Multiple studies have shown that mutations in genes involved in heart development could cause congenital heart disease. The CITED2 gene works as a transcription factor in the hypoxic pathway for the development of the heart. Therefore, five CHD types, ventricular septal de...

Alternative Titles

Full title

Missense mutations in the CITED2 gene may contribute to congenital heart disease

Authors, Artists and Contributors

Identifiers

Primary Identifiers

Record Identifier

TN_cdi_doaj_primary_oai_doaj_org_article_73e9141414fa4f15b8d11271faa1e586

Permalink

https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_doaj_primary_oai_doaj_org_article_73e9141414fa4f15b8d11271faa1e586

Other Identifiers

ISSN

1471-2261

E-ISSN

1471-2261

DOI

10.1186/s12872-024-04035-2

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