Noonan syndrome and clinically related disorders

M Tartaglia, BD Gelb, M Zenker - Best practice & research Clinical …, 2011 - Elsevier
Noonan syndrome is a relatively common, clinically variable developmental disorder.
Cardinal features include postnatally reduced growth, distinctive facial dysmorphism,
congenital heart defects and hypertrophic cardiomyopathy, variable cognitive deficit and
skeletal, ectodermal and hematologic anomalies. Noonan syndrome is transmitted as an
autosomal dominant trait, and is genetically heterogeneous. So far, heterozygous mutations
in nine genes (PTPN11, SOS1, KRAS, NRAS, RAF1, BRAF, SHOC2, MEK1 and CBL) have …