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Article

Evaluation of the thyroid transcription factor-1 gene (TITF1) as a Hirschsprung's disease locus.

Annals of human genetics - 1 Nov 2007

Garcia-Barceló Maria-Mercè, Lau Danny Ko-chun, Ngan Elly Sau-wai, Leon Thomas Yuk-yu, Liu Ting-ting, So Man-ting, Miao Xiao-ping, Lui Vincent Chi-hang, Wong Kenneth Kak-yuen, Ganster Raymond William, Cass Daniel Thomas, Croaker Geoffrey David Hain, Tam Paul Kwong-hang

Abstract excerpt

Hirschsprung's disease (HSCR, colonic aganglionosis) is an oligogenic entity that usually requires mutations in RET and other interacting loci. Decreased levels of RET expression may lead to the manifestation of HSCR. We previously showed that RET transcription was decreased due to alteration of...

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Source

Identifiers

PMID: 17640327
DOI: 10.1111/j.1469-1809.2007.00384.x

Genes

RET

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 2 Sept 2026. Prepared record publication-17640327-2026-09-02.2. Manifest publication-graph-cohort-2026-09-02.2.

Source receipt: PubMed via Helena Literature Corpus, retrieved 2 Sept 2026.

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