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Article

Association between PTCH1 polymorphisms and risk of neural tube defects in a Chinese population.

Birth defects research. Part A, Clinical and molecular teratology - 1 Jun 2013

Wang Zhen, Wang Li, Shangguan Shaofang, Lu Xiaolin, Chang Shaoyan, Wang Jianhua, Zou Jizhen, Wu Lihua, Zhang Ting, Luo Yi

Abstract excerpt

BACKGROUND: SHH signaling pathway plays an important role in the formation of the neural plate and is involved in the regulation of the dorsoventral (DV) axis of the neural tube. Some neural tube defects (NTDs) may be caused through overactivation of the SHH signaling pathway. The PTCH1 gene, encoding a negative regulator of SHH signaling, affects neural tube closure in animal models. However, in humans, the...

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Source

Identifiers

PMID: 23761049
DOI: 10.1002/bdra.23152

Genes

PTCH1
SHH

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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