Gain-of-function mutations in the gene encoding the tyrosine phosphatase SHP2 induce hydrocephalus in a catalytically dependent manner

Catalytically activating mutations in , which encodes the protein tyrosine phosphatase SHP2, cause 50% of Noonan syndrome (NS) cases, whereas inactivating mutations in are responsible for nearly all cases of the similar, but distinct, developmental disorder Noonan syndrome with multiple lentigines (...

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