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Article

A novel mutation in the gene encoding noggin is not causative in human neural tube defects.

Journal of neurogenetics - 1 Jan 2000

Bauer Kim A, George Timothy M, Enterline David S, Stottmann Rolf W, Melvin Elizabeth C, Siegel Deborah, Samal Surekha, Hauser Michael A, Klingensmith John, Nye Jeffery S, Speer Marcy C

Abstract excerpt

Neural tube defects (NTD) are a common birth defect, with both genetic and environmental contributions to their etiology. In mouse, null mutations in Noggin result in fully-penetrant NTDs. We investigated Noggin for mutations that may predispose to human NTDs in 202 NTD cases. One variant allele...

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PMID: 12420790

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 2 Sept 2026. Prepared record publication-12420790-2026-09-02.2. Manifest publication-graph-cohort-2026-09-02.2.

Source receipt: PubMed via Helena Literature Corpus, retrieved 2 Sept 2026.

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