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Exploring the Mutational Landscape of Isolated Congenital Heart Defects: An Exome Sequencing Study Using Cardiac DNA.

Genes - 7 Jul 2022

Meerschaut Ilse, Steyaert Wouter, Bové Thierry, François Katrien, Martens Thomas, De Groote Katya, De Wilde Hans, Muiño Mosquera Laura, Panzer Joseph, Vandekerckhove Kristof, Moons Lara, Vermassen Petra, Symoens Sofie, Coucke Paul J, De Wolf Daniël, Callewaert Bert

Abstract excerpt

Congenital heart defects (CHD) are the most common congenital anomalies in liveborn children. In contrast to syndromic CHD (SCHD), the genetic basis of isolated CHD (ICHD) is complex, and the underlying pathogenic mechanisms appear intricate and are incompletely understood. Next to rare Mendelian conditions, somatic mosaicism or a complex multifactorial genetic architecture are assumed for most ICHD. We performed...

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Identifiers

PMID: 35885997
DOI: 10.3390/genes13071214
PMCID: PMC9320903

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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