| Literature DB >> 17086185 |
Maki Fukami1, Yuka Wada, Kanako Miyabayashi, Ichizo Nishino, Tomonobu Hasegawa, Agneta Nordenskjöld, Giovanna Camerino, Christine Kretz, Anna Buj-Bello, Jocelyn Laporte, Gen Yamada, Ken-Ichirou Morohashi, Tsutomu Ogata.
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.Entities:
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Year: 2006 PMID： 17086185 DOI： 10.1038/ng1900
Source DB: PubMed Journal: Nat Genet ISSN： 1061-4036 Impact factor: 38.330