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Article

Hypospadias associated with hypertelorism, the mildest phenotype of Opitz syndrome.

Journal of human genetics - 1 May 2011

Zhang Xufeng, Chen Yougen, Zhao Shentiang, Markljung Ellen, Nordenskjöld Agneta

Abstract excerpt

Hypospadias is a common congenital malformation in boys in which the urethral meatus opens on the underside of the penis. It is considered a complex disorder with several genes involved and the molecular etiology is just beginning to be revealed. As more than 85% of Opitz G/BBB syndrome (OS) patients with MID1 mutations are manifested with hypospadias, we have investigated the association between the MID1 gene...

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Source

Identifiers

PMID: 21326312
DOI: 10.1038/jhg.2011.17

Genes

MID1

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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