Genetics of Noonan syndrome – a new gene, and the search is still on

Germline gain‐of‐function mutations in SOS1 cause Noonan syndrome
Roberts et al. (2007)
Nature Genetics 39: 70–74Gain‐of‐function SOS1 mutations cause a distinctive form of Noonan syndrome
Tartaglia et al. (2007)
Nature Genetics 39: 75–79