| 1 | RSPO1, PPKSR
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| Syndromic true hermaphroditism due to an R-spondin1 (RSPO1) homozygous mutation.
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| Tomaselli S, Megiorni F, De Bernardo C, Felici A, Marrocco G, Maggiulli G, Grammatico B, Remotti D, Saccucci P, Valentini F, Mazzilli MC, Majore S, Grammatico P.
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| Hum Mutat 29(2):220-6. 2008
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| 2 | RSPO1, PPKSR
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| R-spondin1 is essential in sex determination, skin differentiation and malignancy.
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| Parma P, Radi O, Vidal V, Chaboissier MC, Dellambra E, Valentini S, Guerra L, Schedl A, Camerino G.
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| Nat Genet 38(11):1304-9. Epub 2006 Oct 15. 2006
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| 3 | PPKSR, SRY, SOX9, NR0B1, DSS, GDXY, SRA, SRA2,SRA3
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| Sex determination and sex reversal.
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| Camerino G, Parma P, Radi O, Valentini S.
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| Curr Opin Genet Dev 16(3):289-92. Epub 2006 May 2. Review. 2006
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| 4 | PPKSR, SRY, SOX9, NR0B1, DSS, GDXY, SRA, SRA2, SRA3
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| One tissue, two fates: molecular genetic events that underlie testis versus ovary development.
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| Brennan J, Capel B.
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| Nat Rev Genet 5(7):509-21. Review. No abstract available. 2004
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