Journal
NATURE GENETICS
Volume 38, Issue 11, Pages 1304-1309Publisher
NATURE PUBLISHING GROUP
DOI: 10.1038/ng1907
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Funding
- Telethon [GGP06252] Funding Source: Medline
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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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