About half of the cases can be accounted to activating mutations in the PTPN11 gene encoding SHP-2. We report on a family with mild, variable expression of Noonan syndrome in five individuals. Clinical manifestations included short stature, craniofacial anomalies and thorax deformity, but none of ...
SYMPTOMSDISABILITIESGENOTYPE-environment interactionSHORT statureBackground: Noonan syndrome (NS)/Noonan syndrome with multiple lentigines (NSML) is commonly characterized by distinct facial features, a short stature, cardiac problems, and a developmental delay of variable degrees. However, as many as 50...
Ozer, S.; Noonan, K.; Burke, M.; Young, J.; Barber, S.; Forster, A.; Jones, R. The validity of the Memory Alteration Test and the Test Your Memory test for community-based identification of amnestic mild cognitive impairment.Alzheimers Dement.2016,12, 987–995. [Google Scholar] [Cr...