“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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