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Journal Articles Nature Genetics Year : 2006

CXorf6 is a causative gene for hypospadias.

Maki Fukami
  • Function : Author
Yuka Wada
  • Function : Author
Kanako Miyabayashi
  • Function : Author
Ichizo Nishino
  • Function : Author
Tomonobu Hasegawa
  • Function : Author
Agneta Nordenskjöld
  • Function : Author
Giovanna Camerino
  • Function : Author
Gen Yamada
  • Function : Author
Ken-Ichirou Morohashi
  • Function : Author
Tsutomu Ogata
  • Function : Author

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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Dates and versions

hal-00187913 , version 1 (15-11-2007)

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Maki Fukami, Yuka Wada, Kanako Miyabayashi, Ichizo Nishino, Tomonobu Hasegawa, et al.. CXorf6 is a causative gene for hypospadias.. Nature Genetics, 2006, 38 (12), pp.1369-71. ⟨10.1038/ng1900⟩. ⟨hal-00187913⟩
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