Noonan syndrome

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A genetic syndrome caused by mutations in the ptpn11 gene (over 50% of the cases) or less frequently mutations in the sos1, raf1, or kras genes. It is characterized by short stature, webbed neck, hypertelorism, low-set ears, deafness, and thrombocytopenia or abnormal platelet function.

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Read Wikipedia's article on Noonan syndrome

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