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SEMA3A rs7804122 polymorphism is associated with Hirschsprung disease in the Northeastern region of China.

Birth defects research. Part A, Clinical and molecular teratology - 1 Feb 2012

Wang Li-Li, Zhang Yi, Fan Yang, Li Hui, Zhou Feng-Hua, Miao Jia-Ning, Gu Hui, Huang Tian-Chu, Yuan Zheng-Wei

Abstract excerpt

BACKGROUND: Hirschsprung disease (HSCR) is a congenital disorder characterized by an absence of intrinsic ganglion cells in the nerve plexuses of the lower colon. Our previous results showed increased semaphorin 3A (SEMA3A) expression may be the risk factor for HSCR pathology in a subset of patients. Therefore, the association between polymorphisms in SEMA3A and the risk of HSCR was examined. METHODS: The...

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PMID: 22184102
DOI: 10.1002/bdra.22866

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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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