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  • A predominantly autosomal dominant condition typically caused by mutation(s) in genes encoding proteins involved in the RAS-MAP kinase pathway, disrupting the regulation of cell growth and division. The condition is characterized by short stature, webbed neck, hypertelorism, low-set ears, deafness, pectus excavatum/carinatum, right sided cardiac anomalies (pulmonary stenosis, hypertrophic cardiomyopathy), bleeding disorders, and an increased risk of leukemia. Fifty percent of individuals with Noonan syndrome have mutation(s) in the PTPN11 gene, encoding tyrosine-protein phosphatase non-receptor type 11.
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