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Article

Genome-wide association studies highlight novel risk loci for septal defects and left-sided congenital heart defects.

BMC genomics - 7 Mar 2024

Broberg Martin, Ampuja Minna, Jones Samuel, Ojala Tiina, Rahkonen Otto, Kivelä Riikka, Priest James, Palotie Aarno, Ollila Hanna M, Helle Emmi

Abstract excerpt

BACKGROUND: Congenital heart defects (CHD) are structural defects of the heart affecting approximately 1% of newborns. They exhibit low penetrance and non-Mendelian patterns of inheritance as varied and complex traits. While genetic factors are known to play an important role in the development of CHD, the specific genetics remain unknown for the majority of patients. To elucidate the underlying genetic risk, we...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 38454350
DOI: 10.1186/s12864-024-10172-x
PMCID: PMC10918883

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026.

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