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Nature Research, Nature Genetics, 9(46), p. 957-963, 2014

DOI: 10.1038/ng.3063

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Genome-wide association analyses identify variants in developmental genes associated with hypospadias

This paper is available in a repository.
This paper is available in a repository.

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Abstract

Hypospadias is a common congenital condition in boys in which the urethra opens on the underside of the penis. We performed a genome-wide association study on 1,006 surgery-confirmed hypospadias cases and 5,486 controls from Denmark. After replication genotyping of an additional 1,972 cases and 1,812 controls from Denmark, the Netherlands and Sweden, 18 genomic regions showed independent association with P