“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
For inquiries contact undiagnosed@wustl.edu.
