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Letter
Nature Genetics 38, 1304–1309 (1 November 2006) | doi:10.1038/ng1907
R-spondin1 is essential in sex determination, skin differentiation and malignancy
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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.
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