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Article

Submicroscopic chromosomal imbalances detected by array-CGH are a frequent cause of congenital heart defects in selected patients.

European heart journal - 1 Nov 2007

Thienpont Bernard, Mertens Luc, de Ravel Thomy, Eyskens Benedicte, Boshoff Derize, Maas Nicole, Fryns Jean-Pierre, Gewillig Marc, Vermeesch Joris R, Devriendt Koen

Abstract excerpt

AIMS: Congenital heart defects (CHDs) are frequently caused by chromosomal imbalances, especially when associated with additional malformations, dysmorphism, or developmental delay. Only in a subset of such patients, a chromosomal aberration can be identified with current cytogenetic tests. Array...

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Source

Identifiers

PMID: 17384091
DOI: 10.1093/eurheartj/ehl560

Genes

NOTCH1
NSD1

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 2 Sept 2026. Prepared record publication-17384091-2026-09-02.2. Manifest publication-graph-cohort-2026-09-02.2.

Source receipt: PubMed via Helena Literature Corpus, retrieved 2 Sept 2026.

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