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Identification of a complex congenital heart defect susceptibility locus by using DNA pooling and shared segment analysis.

Human molecular genetics - 1 Jan 1997

Sheffield V C, Pierpont M E, Nishimura D, Beck J S, Burns T L, Berg M A, Stone E M, Patil S R, Lauer R M

Abstract excerpt

The identification of genetic loci involved in most forms of congenital heart disease has been hampered by the complex inheritance patterns of these disorders. Atrioventricular canal defects (AVCDs) are most commonly associated with Down syndrome, although non-syndromic cases also occur. Non-syndromic AVCDs have been attributed to multifactorial inheritance. However, the occurrence of a few kindreds with multiple...

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PMID: 9002679
DOI: 10.1093/hmg/6.1.117

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

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