Article
Response to growth hormone in short children with Noonan syndrome: correlation to genotype.
Hormone research - 1 Dec 2009
Binder Gerhard
Abstract excerpt
Short stature is a major characteristic of Noonan syndrome (NS), the biological basis of which is not yet clear. In around half of all individuals with NS, the cytoplasmic tyrosine phosphatase SHP2 encoded by PTPN11 is mutated and predicted to be overactive. While SHP2 enhances Ras-MAPK signaling...
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