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Article

Association analysis of the SOX10 polymorphism with Hirschsprung disease in the Han Chinese population.

Journal of pediatric surgery - 1 Oct 2011

Pan Zhi-Wen, Lou Jintu, Luo Chunfen, Yu Linjun, Li Ji-Cheng

Abstract excerpt

BACKGROUND: Hirschsprung disease (HSCR, Online Mendelian Inheritance in Man 142623) is a typical developmental disorder of the enteric nervous system in which ganglion cells fail to innervate the lower gastrointestinal tract during embryonic development. SOX10 gene is involved in the normal development of the enteric nervous system. Heterozygous SOX10 mutations have been identified in patients with syndromic...

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Identifiers

PMID: 22008330
DOI: 10.1016/j.jpedsurg.2011.05.017

Genes

SOX10
CAT

Variants

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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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