Briggs B, Savla D, Ramchandar N, Dimmock D, Le D, Thornburg CD. The evaluation of hematologic screening and perioperative management in patients with Noonan syndrome: a retrospective chart review. J Pediatr. 2020;220:154–158.e6.https://doi.org/10.1016/j.jpeds.2020.01.048. Epub 2020 Feb...
After 2006, germline mutations in the KRAS, SOS1, and RAF1 genes were reported to cause Noonan syndrome (NS), in addition to the PTPN11 gene, and now we can find the etiology of disease in approximately 60–70% of NS cases. The aim of this study was to assess the correlation between...
Background: We have previously demonstrated that short children with Idiopathic Short Stature (ISS), Growth Hormone Deficiency (GHD), and their short siblings have significantly diminished pituitary volumes (PV) compared to normal children. In comparison, patients with Turner syndrome have not been fou...
Noonan syndrome (NS) and the clinically related NS with multiple lentiginous (NMLS) are genetic conditions characterized by upregulated RAS mitogen activated protein kinase (RAS–MAPK) signaling, which is known to impact hippocampus-dependent memory formation and consolidation. The aim of the present...