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Frequency of 22q11.2 microdeletion in children with congenital heart defects in western poland

Frequency of 22q11.2 microdeletion in children with congenital heart defects in western poland

https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_doaj_primary_oai_doaj_org_article_860c04c9c3fb489d9c857f43ec241dcd

Frequency of 22q11.2 microdeletion in children with congenital heart defects in western poland

About this item

Full title

Frequency of 22q11.2 microdeletion in children with congenital heart defects in western poland

Publisher

England: BioMed Central Ltd

Journal title

BMC pediatrics, 2010-12, Vol.10 (1), p.88-88, Article 88

Language

English

Formats

Publication information

Publisher

England: BioMed Central Ltd

More information

Scope and Contents

Contents

The 22q11.2 microdeletion syndrome (22q11.2 deletion syndrome -22q11.2DS) refers to congenital abnormalities, including primarily heart defects and facial dysmorphy, thymic hypoplasia, cleft palate and hypocalcaemia. Microdeletion within chromosomal region 22q11.2 constitutes the molecular basis of this syndrome. The 22q11.2 microdeletion syndrome...

Alternative Titles

Full title

Frequency of 22q11.2 microdeletion in children with congenital heart defects in western poland

Identifiers

Primary Identifiers

Record Identifier

TN_cdi_doaj_primary_oai_doaj_org_article_860c04c9c3fb489d9c857f43ec241dcd

Permalink

https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_doaj_primary_oai_doaj_org_article_860c04c9c3fb489d9c857f43ec241dcd

Other Identifiers

ISSN

1471-2431

E-ISSN

1471-2431

DOI

10.1186/1471-2431-10-88

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