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Article

Exome analysis in an Estonian multiplex family with neural tube defects-a case report.

Child's nervous system : ChNS : official journal of the International Society for Pediatric Neurosurgery - 1 Sept 2017

Pappa Liina, Kals Mart, Kivistik Paula Ann, Metspalu Andres, Paal Ann, Nikopensius Tiit

Abstract excerpt

INTRODUCTION: Neural tube defects (NTDs) are a group of common and severe congenital birth defects that occur during early embryonic development due to incomplete closure of the neural tube. The genetic architecture of human NTDs, including spina bifida and hydrocephalus, is highly heterogeneous, with multiple genes/loci and both gene-gene and gene-environment interactions involved. Hence, the variation in...

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Identifiers

PMID: 28721594
DOI: 10.1007/s00381-017-3491-1

Genes

CBS
PLCD4
PTK7
RASSF4

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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