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Article

Loss-of-function mutations in growth differentiation factor-1 (GDF1) are associated with congenital heart defects in humans.

American journal of human genetics - 1 Nov 2007

Karkera J D, Lee J S, Roessler E, Banerjee-Basu S, Ouspenskaia M V, Mez J, Goldmuntz E, Bowers P, Towbin J, Belmont J W, Baxevanis A D, Schier A F, Muenke M

Abstract excerpt

Congenital heart defects (CHDs) are among the most common birth defects in humans (incidence 8-10 per 1,000 live births). Although their etiology is often poorly understood, most are considered to arise from multifactorial influences, including environmental and genetic components, as well as from less common syndromic forms. We hypothesized that disturbances in left-right patterning could contribute to the...

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Share to DNA Mutational Analysis
Share to Embryo, Nonmammalian

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Gene Expression Regulation, Developmental

Share to Heart Defects, Congenital

Share to Intercellular Signaling Peptides and Proteins

Share to Protein Structure, Secondary

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Source

Open in PubMed Open full text

Identifiers

PMID: 17924340
DOI: 10.1086/522890
PMCID: PMC2265655

Genes

GDF1

Provenance

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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