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Science Saturday: Mayo Clinic researchers use new innovative technology to diagnose teen brothers with ultra-rare genetic disorder
August 26, 2023
When Emery Diffendorfer was a baby, he couldn’t hold his head up or babble like other infants his age. His rare genetic disorder enlarged his tongue and head, and he had weakened muscle tone, brittle bones, sleep apnea, poor eyesight and persistent infections in his tonsils and adenoids. By six months old, the tiny Mayo Clinic patient was in the intensive care unit with severe pneumonia. That’s when Cheryl Diffendorfer and Amy Honsey — both…
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