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Association of copy number variation in X chromosome-linked PNPLA4 with heterotaxy and congenital he...

Association of copy number variation in X chromosome-linked PNPLA4 with heterotaxy and congenital he...

https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_doaj_primary_oai_doaj_org_article_b1195d0e216e4226b25a65b78a916be5

Association of copy number variation in X chromosome-linked PNPLA4 with heterotaxy and congenital heart disease

About this item

Full title

Association of copy number variation in X chromosome-linked PNPLA4 with heterotaxy and congenital heart disease

Publisher

China: Lippincott Williams & Wilkins Ovid Technologies

Journal title

Chinese medical journal, 2024-08, Vol.137 (15), p.1823-1834

Language

English

Formats

Publication information

Publisher

China: Lippincott Williams & Wilkins Ovid Technologies

More information

Scope and Contents

Contents

Heterotaxy (HTX) is a thoracoabdominal organ anomaly syndrome and commonly accompanied by congenital heart disease (CHD). The aim of this study was to analyze rare copy number variations (CNVs) in a HTX/CHD cohort and to examine the potential mechanisms contributing to HTX/CHD.
Chromosome microarray analysis was used to identify rare CNVs in a c...

Alternative Titles

Full title

Association of copy number variation in X chromosome-linked PNPLA4 with heterotaxy and congenital heart disease

Identifiers

Primary Identifiers

Record Identifier

TN_cdi_doaj_primary_oai_doaj_org_article_b1195d0e216e4226b25a65b78a916be5

Permalink

https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_doaj_primary_oai_doaj_org_article_b1195d0e216e4226b25a65b78a916be5

Other Identifiers

ISSN

0366-6999,2542-5641

E-ISSN

2542-5641

DOI

10.1097/CM9.0000000000003192

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