For example, features of Noonan syndrome include widely spaced eyes, a deep groove between the mouth and nose, and low, backward-rotated ears. Babies with certain growth disorders, such as PWS ...
Yorke Parkin strapped on his first pair of skis when he was six years old, and he hasn't looked back since. Now, 10 years later, the Revelstoke teen will be heading to the Special Olympics World Ga ...
Noonan syndrome with multiple lentigines (NSML) is a rare autosomal dominant disorder, primarily caused by variants in the PTPN11 gene. Characterized by multiple lentigines, hypertelorism, short ...
Subsequently they were recognised as having Noonan syndrome (NS); incidence of 1:1000 to 1:2500 live births. Recent advances in molecular genetics have identified considerable genetic heterogenicity ...
BACKGROUND Growth hormone (GH) has been used to promote growth in both the short and long term in a number of dysmorphic syndromes, including Turner syndrome. As this condition shares many clinical ...
Noonan syndrome is a condition that some babies are born with. It causes changes in the face and chest, usually includes heart problems, and slightly raises a child's risk of blood cancer (leukemia).
Most papers dealing with the GH treatment of RASopathies concern the Noonan syndrome and the influence of PTPN11 mutations. However, little is known regarding GH treatment and final height in other ...