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. 2006 Nov;38(11):1304-9.
doi: 10.1038/ng1907. Epub 2006 Oct 15.

R-spondin1 is essential in sex determination, skin differentiation and malignancy

Pietro Parma  1 , Orietta Radi, Valerie Vidal, Marie Christine Chaboissier, Elena Dellambra, Stella Valentini, Liliana Guerra, Andreas Schedl, Giovanna Camerino
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R-spondin1 is essential in sex determination, skin differentiation and malignancy

Pietro Parma et al. Nat Genet. 2006 Nov.

Abstract

R-spondins are a recently characterized small family of growth factors. Here we show that human R-spondin1 (RSPO1) is the gene disrupted in a recessive syndrome characterized by XX sex reversal, palmoplantar hyperkeratosis and predisposition to squamous cell carcinoma of the skin. Our data show, for the first time, that disruption of a single gene can lead to complete female-to-male sex reversal in the absence of the testis-determining gene, SRY.

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