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Structural heart defects associated with ET B mutation, a cause of Hirschsprung disease

Structural heart defects associated with ET B mutation, a cause of Hirschsprung disease

https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_pubmed_primary_34600481

Structural heart defects associated with ET B mutation, a cause of Hirschsprung disease

About this item

Full title

Structural heart defects associated with ET B mutation, a cause of Hirschsprung disease

Publisher

England

Journal title

BMC cardiovascular disorders, 2021-10, Vol.21 (1), p.475

Language

English

Formats

Publication information

Publisher

England

More information

Scope and Contents

Contents

HSCR, a colonic neurocristopathy affecting 1/5000 births, is suggested to associate with cardiac septal defects and conotruncal malformations. However, we question subtle cardiac changes maybe more commonly present due to multi-regulations by HSCR candidate genes, in this instance, ET
. To investigate, we compared the cardiac morphology and quan...

Alternative Titles

Full title

Structural heart defects associated with ET B mutation, a cause of Hirschsprung disease

Authors, Artists and Contributors

Identifiers

Primary Identifiers

Record Identifier

TN_cdi_pubmed_primary_34600481

Permalink

https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_pubmed_primary_34600481

Other Identifiers

E-ISSN

1471-2261

DOI

10.1186/s12872-021-02281-2

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