| First Author | Parma P | Year | 2006 |
| Journal | Nat Genet | Volume | 38 |
| Issue | 11 | Pages | 1304-9 |
| PubMed ID | 17041600 | Mgi Jnum | J:222912 |
| Mgi Id | MGI:5645950 | Doi | 10.1038/ng1907 |
| Citation | Parma P, et al. (2006) R-spondin1 is essential in sex determination, skin differentiation and malignancy. Nat Genet 38(11):1304-9 |
| abstractText | 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. |
