Noonan syndrome is the most common rare syndrome you've never heard of. And 4-year-old Lila Santilli has had it since birth. "She was born with something like a nuchal fold, which is an excess amount ...

A single mutation in the mouse genome -- within the K-Ras gene -- reproduces the main alterations found in humans of this rare syndrome, which include short stature, facial dysmorphia, cardiac ...

A previously healthy infant who suffered aborted sudden cardiac death was found to have a de novo genetic mutation in the SOS1 gene. Such mutations are typical of Noonan syndrome and suggests the ...

Noonan syndrome is a genetic disorder that affects normal development, causing skeletal, cardiac, and neurocognitive delays. The infant had none of the usual structural cardiac findings of Noonan ...