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Article

Sox10 haploinsufficiency affects maintenance of progenitor cells in a mouse model of Hirschsprung disease.

Human molecular genetics - 15 Nov 2002

Paratore Christian, Eichenberger Christof, Suter Ueli, Sommer Lukas

Abstract excerpt

Hirschsprung disease, or congenital megacolon, is characterized by aganglionosis of the terminal bowel, which leads to intestinal obstruction and chronic constipation. Several genes involved in the disease have been identified. In particular, haploinsufficiency of SOX10, which encodes a transcription factor, results in megacolon, often in combination with other disorders. Although Hirschsprung disease has been...

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Source

Identifiers

PMID: 12417529
DOI: 10.1093/hmg/11.24.3075

Genes

SOX10

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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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