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Genome-wide meta-analysis identifiesBARX1andEML4-MTA3as new loci associated with infantile hypertrophic pyloric stenosis

1 Oct 2018

Abstract excerpt

Infantile hypertrophic pyloric stenosis (IHPS) is a disorder of young infants with a population incidence of ∼2/1000 live births, caused by hypertrophy of the pyloric sphincter smooth muscle. Reported genetic loci associated with IHPS explain only a minor proportion of IHPS risk. To identify new risk loci, we carried out a genome-wide meta-analysis on 1395 surgery-confirmed cases and 4438 controls, with...

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PMID: 30281099
DOI: 10.1093/hmg/ddy347

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