This review provides an updated summary of the state of our knowledge of the genetic
contributions to the pathogenesis of congenital heart disease. Since 2007, when the initial …

GH treatment involves nightly subcutaneous injections in attempt to mirror the pituitary's
endogenous GH secretion. GH therapy is expensive, with median costs per child exceeding …

Noonan syndrome is characterized by short stature, congenital heart defects, broad or
webbed neck, unusual chest shape with superior pectus carinatum and inferior pectus …

Noonan syndrome (NS) is a disorder characterized by a typical facial gestalt, congenital
heart defects, variable cognitive deficits, skeletal defects, and short stature. NS is caused by …

The success of growth hormone (GH) replacement in children with classical GH deficiency
has led to excitement that other causes of short stature may benefit similarly. However …

Objectives: The aim of this study was to evaluate the response to recombinant human
growth hormone (rhGH) treatment in patients with Noonan syndrome (NS). Materials and …

Objectives Growth impairment is a common manifestation in Noonan syndrome (NS).
Recombinant human GH (rhGH) treatment has been shown to increase growth and adult …

Patients with Noonan syndrome typically have a target height< 2 standard deviations
compared to the general population, and half of the affected adults remain permanently …

Noonan syndrome is characterized by multiple phenotypic features, including growth
retardation, which represents the main cause of consultation to the clinician. Longitudinal …

Abstract NS and related RAS/MAPK pathway (RASopathy) disorders are the leading genetic
cause of HCM presenting in infancy. HCM is a major cause of morbidity and mortality in …