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Article

Common variants near MBNL1 and NKX2-5 are associated with infantile hypertrophic pyloric stenosis.

Nature genetics - 5 Feb 2012

Feenstra Bjarke, Geller Frank, Krogh Camilla, Hollegaard Mads V, Gørtz Sanne, Boyd Heather A, Murray Jeffrey C, Hougaard David M, Melbye Mads

Abstract excerpt

Infantile hypertrophic pyloric stenosis (IHPS) is a severe condition characterized by hypertrophy of the pyloric sphincter muscle. We conducted a genome-wide association study (GWAS) on 1,001 surgery-confirmed cases and 2,401 controls from Denmark. The six most strongly associated loci were tested in a replication set of 796 cases and 876 controls. Three SNPs reached genome-wide significance. One of these SNPs,...

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Identifiers

PMID: 22306654
DOI: 10.1038/ng.1067
PMCID: PMC3693399

Genes

MBNL1

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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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Common variants near MBNL1 and NKX2-5 are associated with infantile hypertrophic pyloric stenosis.PMID 22306654Read ↗

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