Rienhoff Identifies Daughter's Mutation
June 26, 2013
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