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Article

A novel stop mutation in the EDNRB gene in a family with Hirschsprung's disease associated with multiple sclerosis.

Journal of pediatric surgery - 1 Apr 2014

Granström Anna Löf, Markljung Ellen, Fink Katharina, Nordenskjöld Edvard, Nilsson Daniel, Wester Tomas, Nordenskjöld Agneta

Abstract excerpt

PURPOSE: We identified a girl with Hirschsprung's disease (HSCR) whose mother and grandmother had HSCR associated with multiple sclerosis (MS). The aim of this study was to outline mutations in HSCR-related genes and MS susceptibility alleles in these three individuals. METHODS: The phenotypes were reviewed based on medical records. The three subjects had rectosigmoid HSCR verified with histopathology. The mother...

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Source

Identifiers

PMID: 24726125
DOI: 10.1016/j.jpedsurg.2013.10.027

Genes

EDNRB

Variants

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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