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Article

Noncoding RET variants explain the strong association with Hirschsprung disease in patients without rare coding sequence variant.

European journal of medical genetics - 1 Apr 2019

Virtanen Valtter B, Salo Perttu P, Cao Jia, Löf-Granström Anna, Milani Lili, Metspalu Andres, Rintala Risto J, Saarenpää-Heikkilä Outi, Paunio Tiina, Wester Tomas, Nordenskjöld Agneta, Perola Markus, Pakarinen Mikko P

Abstract excerpt

The pathogenesis of Hirschsprung disease is complex. Although the RET proto-oncogene is the most frequently affected gene in Hirschsprung disease, rare coding sequence variants explain only a small part of Hirschsprung disease cases. We aimed to assess the genetic background of Hirschsprung disease using a genome-wide association analysis combined with sequencing all RET exons in samples from 105 Hirschsprung...

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Source

Identifiers

PMID: 30031151
DOI: 10.1016/j.ejmg.2018.07.019

Genes

RET
NRG1

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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