| Literature DB >> 17041600 |
Pietro Parma1, Orietta Radi, Valerie Vidal, Marie Christine Chaboissier, Elena Dellambra, Stella Valentini, Liliana Guerra, Andreas Schedl, Giovanna Camerino.
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.Entities:
Mesh：
Substances：
Year: 2006 PMID： 17041600 DOI： 10.1038/ng1907
Source DB: PubMed Journal: Nat Genet ISSN： 1061-4036 Impact factor: 38.330