46,XY disorders of sex development (DSD) refer to a wide range of abnormal genitalia, including hypospadias, which affects B0.5% 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.
CXorf6 is a causative gene for hypospadias.
CAMERINO, GIOVANNA;
2006-01-01
Abstract
46,XY disorders of sex development (DSD) refer to a wide range of abnormal genitalia, including hypospadias, which affects B0.5% 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.File in questo prodotto:
Non ci sono file associati a questo prodotto.
I documenti in IRIS sono protetti da copyright e tutti i diritti sono riservati, salvo diversa indicazione.
