@article{e1b2e2ef99b040ee9ff8d93b0c928e38,
title = "CXorf6 is a causative gene for hypospadias",
abstract = "46,XY disorders of sex development (DSD) refer to a wide range of abnormal genitalia, including hypospadias, which affects ∼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.",
author = "Maki Fukami and Yuka Wada and Kanako Miyabayashi and Ichizo Nishino and Tomonobu Hasegawa and Giovanna Camerino and Christine Kretz and Anna Buj-Bello and Jocelyn Laporte and Gen Yamada and Morohashi, {Ken Ichirou} and Tsutomu Ogata",
note = "Funding Information: We thank M. Kaji, T. Nagai, I. Sasagawa, K. Ueoka, K. Aoki, W. Kress, O. Bartsch, V. Biancalana, L. Van Maldergem and A. Nordenskj{\"o}ld for providing us with blood samples from patients; T. Chen, Q. Li, and Y. Shen for participating in the mutation screening; K. Homma for urine steroid profile analysis and F. Kato for technical assistance. This work was supported by a grant for Child Health and Development from the Ministry of Health, Labor and Welfare of Japan (17C-2); by a Grant-in-Aid for Scientific Research on Priority Areas from the Ministry of Education, Science, Sports and Culture of Japan (16086215 and 16590218) and by the Institut National de la Sant{\'e} et de la Recherche M{\'e}dicale, the Centre National de la Recherche Scientifique and the College de France.",
year = "2006",
month = dec,
day = "5",
doi = "10.1038/ng1900",
language = "English",
volume = "38",
pages = "1369--1371",
journal = "Nature genetics",
issn = "1061-4036",
publisher = "Nature Publishing Group",
number = "12",
}