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Article

Association between ABHD1 and DOK6 polymorphisms and susceptibility to Hirschsprung disease in Southern Chinese children.

Journal of cellular and molecular medicine - 1 Oct 2021

Lan Chaoting, Wu Yuxin, Wang Ning, Luo Yun, Zhao Jinglu, Zheng Yi, Zhang Yan, Huang Lihua, Zhu Yun, Lu Lifeng, Zhong Wei, Zeng Jixiao, Xia Huimin

Abstract excerpt

Hirschsprung disease (HSCR) is an infrequent congenital intestinal dysplasia. The known genetic variations are unable to fully explain the pathogenesis of HSCR. The α/β-hydratase domain 1 (ABHD1) interferes with the proliferation and migration of intestinal stem cells. Docking protein 6 (DOK6) is involved in neurodevelopment through RET signalling pathway. We examined the association of ABHD1 and DOK6 genetic...

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Identifiers

PMID: 34545688
DOI: 10.1111/jcmm.16905
PMCID: PMC8505836

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