ba0002p94 | (1) | ICCBH2013
Bodescu Ioana
, Rusu Cristina
, Idriceanu Jeanina
, Vasiliu Ioana
, Vulpoi Carmen
, Constantinescu Georgiana
Background: Noonan syndrome (NS) is a genetic multisystem disorder characterized by distinctive facial features, learning difficulties, short stature, and cardiac defects. Other important findings include skeletal anomalies, especially spinal and chest deformities. Skeletal dysplasia was proven to be secondary to a disorder of RAS-mitogen activated protein kinase (MAPK) pathway which is essential for regulation of cell differentiation and growth including bone homeostasis. We ...