Proteus Syndrome Telebriefing (HD)

July 27, 2011 - NHGRI scientists have found the gene mutation that causes Proteus syndrome, a rare disorder that causes tissue and bone to grow out of proportion to the body. The study describing the AKT1 gene mutation was published in the online edition of The New England Journal of Medicine. For more information go to: http://www.genome.gov/proteus.

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Science & Technology

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• Proteus Syndrome

[topcatjuju2]

Thank you for this wonderful research and discovery. My son died in 1993 at 20 of a pulmonary embolism from Proteus syndrome diagnosed at Mass General. He was#15 in world at time of his diagnosis. Hopefully this will help Proteus patients and others. Also thanks to PSF persevering efforts for our children.

[rafaelwaa]

Very interesting !