Article
Postzygotic HRAS and KRAS mutations cause nevus sebaceous and Schimmelpenning syndrome.
Nature genetics - 10 Jun 2012
Groesser Leopold, Herschberger Eva, Ruetten Arno, Ruivenkamp Claudia, Lopriore Enrico, Zutt Markus, Langmann Thomas, Singer Sebastian, Klingseisen Laura, Schneider-Brachert Wulf, Toll Agusti, Real Francisco X, Landthaler Michael, Hafner Christian
Abstract excerpt
Nevus sebaceous is a common congenital cutaneous malformation. Affected individuals may develop benign and malignant secondary tumors in the nevi during life. Schimmelpenning syndrome is characterized by the association of nevus sebaceous with extracutaneous abnormalities. We report that of 65 sebaceous nevi studied, 62 (95%) had mutations in the HRAS gene and 3 (5%) had mutations in the KRAS gene. The HRAS...
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