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Article

GT-repeat extension in the IL11 promoter is associated with Hirschsprung's disease (HSCR).

Gene - 30 Nov 2018

Haase Michael G, Schulze Annekatrin, Grover Sandeep, Kemnitz Ivonne, König Inke R, Fitze Guido

Abstract excerpt

Hirschsprung's disease (HSCR) is a congenital disease characterized by intestinal obstruction due to a defective intestinal neural system. Frequently, the disease is associated with an intestinal inflammation. The most common known underlying genetic alterations are in the RET gene but HSCR can also be caused by mutations in other genes that are responsible for the maturation and migration of intestinal neural...

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Source

Identifiers

PMID: 30056070
DOI: 10.1016/j.gene.2018.07.054

Genes

RET

Provenance

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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