VIRTUAL UDN Genomics Board Meeting – “Solving medical mysteries through team science”

January 20, 2023
12:00 pm - 1:00 pm
Zoom conference

Solving medical mysteries through team science

Hosted by the Undiagnosed Disease Network (UDN)

Hear about the diagnostic journeys of two cases from their medical teams:

  • 2-year-old female with a history of dysmorphic features, significant developmental delay with global hypotonia, generalized polymicrogyria, epilepsy, and GT dependence with deep intronic variants in POLR3A
  • Unsolved case: 26-year-old female with a history of ataxia and significant cognitive decline with unusual brain MRI findings

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