Testosterone production during puberty in two 46,XY patients with disorders of sex development and novel NR5A1 (SF-1) mutations

Benzer Materyaller

• 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
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  Baskı/Yayın Bilgisi: (2009)
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  Yazar:: Wu, Joyce Y, ve diğerleri
  Baskı/Yayın Bilgisi: (2013)
• Heterozygous missense mutations in steroidogenic factor 1 (SF1/Ad4BP, NR5A1) are associated with 46,XY disorders of sex development with normal adrenal function
  Yazar:: Lin, Lin, ve diğerleri
  Baskı/Yayın Bilgisi: (2007)