Noonan syndrome

From WikiMD

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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Link to this page: <a href="http://www.wikimd.org/wiki/Noonan_syndrome">Noonan syndrome</a>

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