Five novel mutations in steroidogenic factor 1 (SF1, NR5A1) in 46,XY patients with severe underandrogenization but without adrenal insufficiency

অনুরূপ উপাদানগুলি

• The spectrum of phenotypes associated with mutations in steroidogenic factor 1 (SF-1, NR5A1, Ad4BP) includes severe penoscrotal hypospadias in 46,XY males without adrenal insufficiency
  অনুযায়ী: Köhler, Birgit, অন্যান্য
  প্রকাশিত: (2009)
• Testosterone production during puberty in two 46,XY patients with disorders of sex development and novel NR5A1 (SF-1) mutations
  অনুযায়ী: Tantawy, Sally, অন্যান্য
  প্রকাশিত: (2012)
• Steroidogenic factor-1 (SF-1, NR5A1) and human disease
  অনুযায়ী: Ferraz-de-Souza, Bruno, অন্যান্য
  প্রকাশিত: (2011)
• Heterozygous missense mutations in steroidogenic factor 1 (SF1/Ad4BP, NR5A1) are associated with 46,XY disorders of sex development with normal adrenal function
  অনুযায়ী: Lin, Lin, অন্যান্য
  প্রকাশিত: (2007)
• Steroidogenic Factor-1 (SF-1, NR5A1) and 46,XX Ovotesticular Disorders of Sex Development: One Factor, Many Phenotypes
  অনুযায়ী: McElreavey, Kenneth, অন্যান্য
  প্রকাশিত: (2017)