|
|||||
|
|
CXorf6 is a causative gene for hypospadias |
|
| Authors: | Fukami Maki Wada Yuka Miyabayashi Kanako Nishino Ichizo Hasegawa Tomonobu Nordenskjöld Agneta Camerino Giovanna Kretz Christine Buj-Bello Anna Laporte Jocelyn Yamada Gen Morohashi Ken-Ichirou Ogata Tsutomu |
| Institution: | Department of Endocrinology and Metabolism, National Research Institute for Child Health and Development, Tokyo 157-8535, Japan. |
| 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. |
| Keywords: | |
| 本文献已被 PubMed 等数据库收录！ | |