Interaction between a chromosome 10 RET enhancer and chromosome 21 in the Down syndrome-Hirschsprung disease association.

doi:10.1002/humu.20944

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Article

Interaction between a chromosome 10 RET enhancer and chromosome 21 in the Down syndrome-Hirschsprung disease association.

Human mutation - 1 May 2009

Arnold Stacey, Pelet Anna, Amiel Jeanne, Borrego Salud, Hofstra Robert, Tam Paul, Ceccherini Isabella, Lyonnet Stanislas, Sherman Stephanie, Chakravarti Aravinda

Abstract excerpt

Individuals with Down syndrome (DS) display a 40-fold greater risk of Hirschsprung disease (HSCR) than the general population of newborns implicating chromosome 21 in HSCR etiology. Here we demonstrate that the RET enhancer polymorphism RET+9.7 (rs2435357:C>T) at chromosome 10q11.2 is associated...

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PMID: 19306335
DOI: 10.1002/humu.20944
PMCID: PMC2779545

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 2 Sept 2026. Prepared record publication-19306335-2026-09-02.2. Manifest publication-graph-cohort-2026-09-02.2.

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

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