CXorf6 is a causative gene for hypospadias

Maki Fukami, Yuka Wada, Kanako Miyabayashi, Ichizo Nishino, Tomonobu Hasegawa, Giovanna Camerino, Christine Kretz, Anna Buj-Bello, Jocelyn Laporte, Gen Yamada, Ken Ichirou Morohashi, Tsutomu Ogata

研究成果: Article査読

111 被引用数 (Scopus)

抄録

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.

本文言語English
ページ(範囲)1369-1371
ページ数3
ジャーナルNature genetics
38
12
DOI
出版ステータスPublished - 2006 12 5

ASJC Scopus subject areas

  • 遺伝学

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