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palmoplantar hyperkeratosis with squamous cell carcinoma of skin and sex reversal
MIM.610644 1p34.3
Saturday 31 March 2007
References
Parma, P.; Radi, O.; Vidal, V.; Chaboissier, M. C.; Dellambra, E.; Valentini, S.; Guerra, L.; Schedl, A.; Camerino, G. : R-spondin 1 is essential in sex determination, skin differentiation and malignancy. Nature Genet. 38: 1304-1309, 2006. PubMed ID : 17041600
Radi, O.; Parma, P.; Imbeaud, S.; Nasca, M. R.; Uccellatore, F.; Maraschio, P.; Tiepolo, L.; Micali, G.; Camerino, G. : XX sex reversal, palmoplantar keratoderma, and predisposition to squamous cell carcinoma: genetic analysis in one family. Am. J. Med. Genet. 138: 241-246, 2005.