Two years ago, Maria, then 14, started feeling off. Her stomach hurt and she often experienced nausea. She was exhausted and looked really pale. Worried, her parents took her to the emergency room.

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 ...

Noonan syndrome with multiple lentigines (NSML) is a rare genetic disorder that causes short stature, distinctive facial features, and clusters of dark skin spots called lentigines. But its most ...

A study now provides proof of concept that restoration of Ras-Erk signaling during adulthood rescues cellular and cognitive phenotypes in mouse models of the genetic disorder Noonan syndrome. You have ...

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 ...

A 64-year-old man with Noonan syndrome presented to the emergency department with a 1-day history of abdominal pain, nausea, vomiting, decreased oral intake, and obstipation. His abdomen was distended ...

Dephosphorylation of the inhibitory “S259” site on RAF kinases (S259 on CRAF, S365 on BRAF) plays a key role in RAF activation. The MRAS GTPase, a close relative of RAS oncoproteins, interacts with ...

To the best of our knowledge, there have been no previously published reports in the medical literature of phytobezoars in patients with Noonan syndrome. This case represents what may be an ...