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Noonan syndrome 2
- ... Testing Registry: Noonan syndrome 10 Genetic Testing Registry: Noonan syndrome 2 Genetic Testing Registry: Noonan syndrome 3 Genetic Testing ... Disorders (NORD) ClinicalTrials.gov NOONAN SYNDROME 1; NS1 NOONAN SYNDROME 2; NS2 NOONAN SYNDROME 4; NS4 NOONAN SYNDROME 3; ...
- ... W, Hudgins L. Neonatal pulmonary arterial hypertension and Noonan syndrome: two fatal cases with a specific RAF1 mutation. Am ...
- ... Yarar C. Novel mutations in PTPN11 gene in two girls with Noonan syndrome phenotype. Int J Cardiol. 2015;186:13-5. ... j.ejmg.2005.03.001. Epub 2005 Apr 2. Citation on PubMed Tartaglia M, Gelb BD. Noonan syndrome and related disorders: genetics and pathogenesis. Annu Rev ...
- Noonan Syndrome (For Parents) (Nemours Foundation)Congenital Heart Defects/Children ... Congenital Heart Defects ... Growth Disorders/Specifics ... Growth Disorders ... noonan, nunan, noonan syndrome, Lymphatic Malformations, ...
- ... lentigines is very similar to a condition called Noonan syndrome, and it can be difficult to tell the two disorders apart in early childhood. However, the features ...
- ... with those of cardiofaciocutaneous syndrome (described above) and two related disorders called Noonan syndrome and Costello syndrome. This condition has been described ...
- ... MW, van Hoorn ME, Rinne T, Houweling AC. Two cases of RIT1 associated Noonan syndrome: Further delineation of the clinical phenotype and review ... Spectrum of mutations and genotype-phenotype analysis in Noonan syndrome patients ... Hum Genet. 2016 Feb;135(2):209-22. doi: 10.1007/s00439-015-1627- ...
- ... profile of a child with SOS1 mutation in Noonan syndrome. Neurologia (Engl Ed). 2018 Mar;33(2):137-138. doi: 10.1016/j.nrl.2016. ... function SOS1 mutations cause a distinctive form of Noonan syndrome. Nat Genet. 2007 ... 2007 Feb;39(2):276. Citation on PubMed Zenker M, Horn D, ...
- ... This Health Condition MedlinePlus Genetics provides information about Noonan syndrome More About This Health Condition At least two mutations in the BRAF gene have been found ...
- ... between mild and severe NSML is similar to Noonan syndrome . However, the main symptom that tells apart the two conditions is that people with NSML have lentigines.