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Article

Genetic contribution of retinoid-related genes to neural tube defects.

Human mutation - 1 Apr 2018

Li Huili, Zhang Jing, Chen Shuyuan, Wang Fang, Zhang Ting, Niswander Lee

Abstract excerpt

Rare variants are considered underlying causes of complex diseases. The complex and severe group of disorders called neural tube defects (NTDs) results from failure of the neural tube to close during early embryogenesis. Neural tube closure requires the coordination of numerous signaling pathways, including the precise regulation of retinoic acid (RA) concentration, which is controlled by enzymes involved in RA...

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Identifiers

PMID: 29297599
DOI: 10.1002/humu.23397
PMCID: PMC5839987

Genes

CRABP1

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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