Using genomics to solve a 20-year medical mystery

Andrew Dauber, M.D., MMSc, chief of endocrinology at Children's National Hospital, talks about the DNA detective work used to diagnose a woman with adrenal insufficiency, sex reversal and Angelman syndrome due to uniparental disomy unmasking a mutation in CYP11A1. This research was recognized as the best novel insightpaper published by Hormone Research in Paediatrics in 2018 for using a variety of genetic tools, and in a variety of ways, to unravel a 20-year medical mystery.