Add to ORKG46,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
Background: Mutations of the NR5A1 gene encoding steroidogenic factor-1 have been reported in associ...
Hypospadias is one of the most frequent congenital anomalies of the male external genitalia. Its pat...
BACKGROUND: Mutations of the NR5A1 gene encoding steroidogenic factor-1 have been reported in associ...
Abstract. MAMLD1 (mastermind-like domain containing 1), previously known as CXorf6 (chromosome X ope...
International audienceMAMLD1 (mastermind-like domain containing 1), previously known as CXorf6 (chro...
gene encoding steroidogenic factor-1 have been reported in association with a wide spectrum of 46,X...
International audienceDuring the last decade, a tremendous amount of work has been devoted to the st...
BACKGROUND: Hypospadias is a common congenital malformation of the male external genitalia. Most cas...
BACKGROUND: Hypospadias is a common congenital malformation of the male external genitalia. Most cas...
BACKGROUND: Hypospadias is a common congenital malformation of the male external genitalia. Most cas...
Hypospadias is a congenital hypoplasia of the penis, with displacement of the urethral opening along...
Hypospadias is a common congenital malformation in boys, characterized by incomplete fusion of the u...
Objective: : Mutations in CXorf6, a recently-described candidate gene involved in the development of...
Hypospadias is a congenital hypoplasia of the penis, with displacement of the urethral opening along...
We examined whether variants in genes related to sex hormone biosynthesis and metabolism were associ...
Background: Mutations of the NR5A1 gene encoding steroidogenic factor-1 have been reported in associ...
Hypospadias is one of the most frequent congenital anomalies of the male external genitalia. Its pat...
BACKGROUND: Mutations of the NR5A1 gene encoding steroidogenic factor-1 have been reported in associ...
Abstract. MAMLD1 (mastermind-like domain containing 1), previously known as CXorf6 (chromosome X ope...
International audienceMAMLD1 (mastermind-like domain containing 1), previously known as CXorf6 (chro...
gene encoding steroidogenic factor-1 have been reported in association with a wide spectrum of 46,X...
International audienceDuring the last decade, a tremendous amount of work has been devoted to the st...
BACKGROUND: Hypospadias is a common congenital malformation of the male external genitalia. Most cas...
BACKGROUND: Hypospadias is a common congenital malformation of the male external genitalia. Most cas...
BACKGROUND: Hypospadias is a common congenital malformation of the male external genitalia. Most cas...
Hypospadias is a congenital hypoplasia of the penis, with displacement of the urethral opening along...
Hypospadias is a common congenital malformation in boys, characterized by incomplete fusion of the u...
Objective: : Mutations in CXorf6, a recently-described candidate gene involved in the development of...
Hypospadias is a congenital hypoplasia of the penis, with displacement of the urethral opening along...
We examined whether variants in genes related to sex hormone biosynthesis and metabolism were associ...
Background: Mutations of the NR5A1 gene encoding steroidogenic factor-1 have been reported in associ...
Hypospadias is one of the most frequent congenital anomalies of the male external genitalia. Its pat...
BACKGROUND: Mutations of the NR5A1 gene encoding steroidogenic factor-1 have been reported in associ...