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Study Uncovers Mutation Responsible for Noonan Syndrome

are the first example of activating mutations in an exchange factor in human disease,' notes Neel, explaining that for families at risk for Noonan syndrome, the findings will aid in prenatal diagnosis and genetic counseling for the disorder.

'Furthermore,' Neel adds, 'because the other two genes that cause Noonan syndrome are also mutated in several types of leukemia and solid tumors, our findings may also expand our knowledge of cancer pathways.'

Source-Newswise
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