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Tag: "noonan" at medical news

Study Uncovers Mutation Responsible for Noonan Syndrome

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. ....Led by researchers at Harvard Medical School-Partn...
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