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Noonan syndrome 2
- ... 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 ...
- ... 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 ...
- ... novel heterozygous MAP2K1 mutation in a patient with Noonan syndrome with multiple lentigines. Am J Med Genet A. 2015 Feb;167A(2):407-11. doi: 10.1002/ajmg.a.36842. ...
- ... Kantarci S, Ragge NK, Thomas NS, Robinson DO, Noonan KM, Russell MK, Donnai D, Raymond FL, Walsh CA, Donahoe PK, Pober BR. Donnai-Barrow syndrome (DBS/FOAR) in a child with a homozygous LRP2 mutation due to complete chromosome 2 paternal isodisomy. Am J Med Genet A. 2008 ...
- ... DYNC2H1 gene have also been found to cause two other disorders of bone ... Saldino-Noonan syndrome. These disorders have signs and symptoms similar ...
- ... This Health Condition MedlinePlus Genetics provides information about Noonan syndrome More About This Health Condition MedlinePlus Genetics provides ...