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Article

Allele-specific expression at the RET locus in blood and gut tissue of individuals carrying risk alleles for Hirschsprung disease.

Human mutation - 1 May 2013

Matera Ivana, Musso Marco, Griseri Paola, Rusmini Marta, Di Duca Marco, So Man-Ting, Mavilio Domenico, Miao Xiaoping, Tam Paul Hk, Ravazzolo Roberto, Ceccherini Isabella, Garcia-Barcelo Merce

Abstract excerpt

RET common variants are associated with Hirschsprung disease (HSCR; colon aganglionosis), a congenital defect of the enteric nervous system. We analyzed a well-known HSCR-associated RET haplotype that encompasses linked alleles in coding and noncoding/regulatory sequences. This risk haplotype correlates with reduced level of RET expression when compared with the wild-type counterpart. As allele-specific...

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Identifiers

PMID: 23441071
DOI: 10.1002/humu.22302

Genes

RET

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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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