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Article

Neuroglial disorders of central and peripheral nervous systems in a patient with Hirschsprung's disease carrying allelic SOX10 truncating mutation.

Journal of pediatric surgery - 1 Apr 2007

Shimotake Takashi, Tanaka Shin-ichiro, Fukui Rui, Makino Shigeru, Maruyama Rikken

Abstract excerpt

BACKGROUND/PURPOSE: Recent biologic studies have revealed that enteric neuroglial deficiency causes gut functional deterioration. We studied the central and peripheral nervous systems in a SOX10 mutation-associated Hirschsprung's patient who presented persistent gut functional disorders even after definitive surgery. METHODS: DNA sequences of all coding regions of the SOX10 gene (22q13) were determined using the...

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Source

Identifiers

PMID: 17448776
DOI: 10.1016/j.jpedsurg.2006.12.003

Genes

SOX10

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 5 Sept 2026. Manifest publication-graph-cohort-2026-09-05.1.

Source receipt: pubmed, retrieved 5 Sept 2026.

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