Congenital heart disease and genetic syndromes: new insights into molecular mechanisms.

doi:10.1080/14737159.2017.1360766

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Article

Congenital heart disease and genetic syndromes: new insights into molecular mechanisms.

Expert review of molecular diagnostics - 1 Sept 2017

Calcagni Giulio, Unolt Marta, Digilio Maria Cristina, Baban Anwar, Versacci Paolo, Tartaglia Marco, Baldini Antonio, Marino Bruno

Abstract excerpt

INTRODUCTION: Advances in genetics allowed a better definition of the role of specific genetic background in the etiology of syndromic congenital heart defects (CHDs). The identification of a number of disease genes responsible for different syndromes have led to the identification of several transcriptional regulators and signaling transducers and modulators that are critical for heart morphogenesis....

Topics

Chromosome Aberrations
Genetic Association Studies
Genetic Markers
Genotype
Heart Defects, Congenital
Humans
Mutation
Phenotype
Syndrome

Source

Open in PubMed

Identifiers

PMID: 28745539
DOI: 10.1080/14737159.2017.1360766

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 30 Aug 2026.

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