Cerebral MRI showed moderate ventriculomegaly ... MGCL with an NS phenotype was an independent NL entity, the NL/MGCL syndrome. The mutations observed in patients with MGCL are not different ...

Noonan syndrome is a genetic condition that can ... and some patients may need to have an ultrasound or CT or MRI scans. A cystoscopy is sometimes recommended to allow the doctor to examine ...

Noonan syndrome is a rare genetic disorder. If you have it, you might have certain identifiable facial features, short height, and unusual chest shape. You may also have heart defects. It can ...

Noonan syndrome is a genetic disorder that affects one in 2,000 children. It is characterized by unusual facial characteristics, cardiac abnormalities, short stature, anomalies of certain blood ...

September 28, 2010 — Because of the variable presentation and the need for multidisciplinary care, Noonan's syndrome (NS) must be identified and managed comprehensively, according to guidelines ...

Published in the online edition of Nature Neuroscience, the findings were studied in mice genetically engineered to develop the disease, called Noonan syndrome. The disorder can disrupt a child ...

Noonan syndrome is a relatively common genetic disorder characterized by short stature, unique facial features, and heart defects. About 10-15 percent of affected individuals have mutations in ...

Noonan syndrome is now known to be a genetically heterogeneous disorder with practically one half of all cases caused by gain-of-function mutations in PTPN11, the gene encoding the SHP-2.

Researchers from Loughborough University spoke to 67 families living with Noonan syndrome. The genetic condition affects between one in 2,000 and one in 2,500 UK births, says the NHS. The research ...