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Study uncovers mutation responsible for Noonan Syndrome
12-04-2006 · EurekAlert!Scientists have discovered that mutations in a gene known as SOS1 account for many cases of Noonan syndrome (NS), a common childhood genetic disorder which occurs in one in 1,000-2,500 live births. NS is characterized by short stature, facial abnormalities and learning disabilities, as well as heart problems and predisposition to leukemia.
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Keywords: study, uncovers, mutation, responsible, noonan, syndrome, uncover
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