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Brief Communication

Nature Genetics 38, 294–296 (1 March 2006) | doi:10.1038/ng1749

Germline KRAS and BRAF mutations in cardio-facio-cutaneous syndrome

Tetsuya Niihori , Yoko Aoki , Yoko Narumi , Giovanni Neri , H|[eacute]|l|[egrave]|ne Cav|[eacute]| , Alain Verloes , Nobuhiko Okamoto , Raoul C M Hennekam , Gabriele Gillessen-Kaesbach , Dagmar Wieczorek , Maria Ines Kavamura , Kenji Kurosawa , Hirofumi Ohashi , Louise Wilson , Delphine Heron , Dominique Bonneau , Giuseppina Corona , Tadashi Kaname , Kenji Naritomi , Clarisse Baumann , Naomichi Matsumoto , Kumi Kato , Shigeo Kure & Yoichi Matsubara

Cardio-facio-cutaneous (CFC) syndrome is characterized by a distinctive facial appearance, heart defects and mental retardation. It phenotypically overlaps with Noonan and Costello syndrome, which are caused by mutations in PTPN11 and HRAS, respectively.