- Human pathology

Home > E. Pathology by systems > Reproductive system > SOX9-associated disorder of sexual differentiation

SOX9-associated disorder of sexual differentiation

Monday 19 April 2010

SOX9-associated disorder of sexual differentiation (SOX9-associated DSD)


- The early history of the Sox genes. Lovell-Badge R. Int J Biochem Cell Biol. 2010 Mar;42(3):378-80. PMID: 20005971

- Koopman P. Sex determination: a tale of two Sox genes. Trends Genet. 2005 Jul;21(7):367-70. PMID: 15949865

- Harley VR, Clarkson MJ, Argentaro A. The molecular action and regulation of the testis-determining factors, SRY (sex-determining region on the Y chromosome) and SOX9. Endocr Rev. 2003 Aug;24(4):466-87. PMID: 12920151

- Clarkson MJ, Harley VR. Sex with two SOX on: SRY and SOX9 in testis development. Trends Endocrinol Metab. 2002 Apr;13(3):106-11. PMID: 11893523


- FOXL2 and SOX9 as parameters of female and male gonadal differentiation in patients with various forms of disorders of sex development (DSD). Hersmus R, Kalfa N, de Leeuw B, Stoop H, Oosterhuis JW, de Krijger R, Wolffenbuttel KP, Drop SL, Veitia RA, Fellous M, Jaubert F, Looijenga LH. J Pathol. 2008 May;215(1):31-8. PMID: 18348162

- De novo 12;17 translocation upstream of SOX9 resulting in 46,XX testicular disorder of sex development. Refai O, Friedman A, Terry L, Jewett T, Pearlman A, Perle MA, Ostrer H. Am J Med Genet A. 2010 Feb;152A(2):422-6. PMID: 20082466

- Diagnosis of true hermaphroditism in a fetus with acampomelic campomelic dysplasia. Beaulieu Bergeron M, Lemyre E, Rypens F, Scherer G, Lemieux N, Fournet JC. Prenat Diagn. 2009 May;29(5):528-30. PMID: 19253311

- Syndromal (and nonsyndromal) forms of male pseudohermaphroditism. Neri G, Opitz J. Am J Med Genet. 1999 Dec 29;89(4):201-9. PMID: 10727995

- A novel germ line mutation in SOX9 causes familial campomelic dysplasia and sex reversal. Cameron FJ, Hageman RM, Cooke-Yarborough C, Kwok C, Goodwin LL, Sillence DO, Sinclair AH. Hum Mol Genet. 1996 Oct;5(10):1625-30. PMID: 8894698

- [Camptomelic dysplasia associated with true hermaphroditism]. Delgado A, Egües J, Molina M, Martínez Peñuela JM, Santolaya JM. An Esp Pediatr. 1984 May;20(8):792-9. Spanish. PMID: 6476626