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Rienhoff Identifies Daughter's Mutation


June 26, 2013 | Hugh Rienhoff's quest seems to be ending. For the past ten years, Rienhoff has been scouring the genome of his daughter, Bea, looking for the genetic cause of her wide-spaced eyes, weak legs, and curled feet. He's had candidates before, but in a paper about to be published in the American Journal of Medical Genetics, Rienhoff identifies a mutation that isn't connected to any other disease and appears to cause Bea's symptoms. Nature
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