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Article

Sequencing Analysis Demonstrates That a Complex Genetic Architecture Contributes to Risk for Spina Bifida.

Birth defects research - 1 Oct 2025

Strain Madison, Garrett Melanie E, Bucklan Max, Jasien Joan M, Worley Gordon, Gleeson Joseph G, Ashley-Koch Allison E

Abstract excerpt

BACKGROUND: Spina bifida (SB), a common neural tube defects (NTDs), has a complex genetic architecture that remains incompletely understood. Although prior studies have identified rare, deleterious single nucleotide variants (SNVs) in SB, broader contributions to risk remain unclear. Here, we investigated shared genetic risk among 256 SB probands compared with 395 ancestry-matched controls using an unbiased...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

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Identifiers

PMID: 41013918
DOI: 10.1002/bdr2.2533
PMCID: PMC12551600

Genes

MAF
CHD5
FAM90A1
FOXA2
GLB1L2
GLB1L3
HSPA4
PDE4DIP
PIF1
PLA1A
SPIRE2
SRCIN1
TVP23B
XCL2

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026.

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