Author(s): Parma P, Radi O, Vidal V, Chaboissier MC, Dellambra E, , Parma P, Radi O, Vidal V, Chaboissier MC, Dellambra E,
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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. 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.
This article was published in Nat Genet
and referenced in Gene Technology