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CXorf6 is a Causative Gene for Hypospadias

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Journal Nat Genet
Specialty Genetics
Date 2006 Nov 7
PMID 17086185
Citations 46
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Abstract

46,XY disorders of sex development (DSD) refer to a wide range of abnormal genitalia, including hypospadias, which affects approximately 0.5% of male newborns. We identified three different nonsense mutations of CXorf6 in individuals with hypospadias and found that its mouse homolog was specifically expressed in fetal Sertoli and Leydig cells around the critical period for sex development. These data imply that CXorf6 is a causative gene for hypospadias.

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