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Human Genetics of Atrial Septal Defect.

Advances in experimental medicine and biology - 1 Jan 2024

Larsen Lars A, Hitz Marc-Phillip

Abstract excerpt

Although atrial septal defects (ASD) can be subdivided based on their anatomical location, an essential aspect of human genetics and genetic counseling is distinguishing between isolated and familiar cases without extracardiac features and syndromic cases with the co-occurrence of extracardiac abnormalities, such as developmental delay. Isolated or familial cases tend to show genetic alterations in genes related...

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PMID: 38884726
DOI: 10.1007/978-3-031-44087-8_24

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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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