Whole genomewide linkage screen for neural tube defects reveals regions of interest on chromosomes 7 and 10.

doi:10.1136/jmg.2005.031658

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Article

Whole genomewide linkage screen for neural tube defects reveals regions of interest on chromosomes 7 and 10.

Journal of medical genetics - 1 Dec 2005

Rampersaud E, Bassuk A G, Enterline D S, George T M, Siegel D G, Melvin E C, Aben J, Allen J, Aylsworth A, Brei T, Bodurtha J, Buran C, Floyd L E, Hammock P, Iskandar B, Ito J, Kessler J A, Lasarsky N, Mack P, Mackey J, McLone D, Meeropol E, Mehltretter L, Mitchell L E, Oakes W J, Nye J S, Powell C, Sawin K, Stevenson R, Walker M, West S G, Worley G, Gilbert J R, Speer M C

Abstract excerpt

Neural tube defects (NTDs) are the second most common birth defects (1 in 1000 live births) in the world. Periconceptional maternal folate supplementation reduces NTD risk by 50-70%; however, studies of folate related and other developmental genes in humans have failed to definitively identify a major causal gene for NTD. The aetiology of NTDs remains unknown and both genetic and environmental factors are...

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Identifiers

PMID: 15831595
DOI: 10.1136/jmg.2005.031658
PMCID: PMC1735960

Genes

FGFR2
GFRA1

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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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