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Letter

Nature Genetics 38, 331–336 (1 March 2006) | doi:10.1038/ng1748

Germline KRAS mutations cause Noonan syndrome

Suzanne Schubbert , Martin Zenker , Sara L Rowe , Silke B|[ouml]|ll , Cornelia Klein , Gideon Bollag , Ineke van der Burgt , Luciana Musante , Vera Kalscheuer , Lars-Erik Wehner , Hoa Nguyen , Brian West , Kam Y J Zhang , Erik Sistermans , Anita Rauch , Charlotte M Niemeyer , Kevin Shannon & Christian P Kratz

Noonan syndrome (MIM 163950) is characterized by short stature, facial dysmorphism and cardiac defects. Heterozygous mutations in PTPN11, which encodes SHP-2, cause |[sim]|50% of cases of Noonan syndrome.