P446: VPS50-related neurodevelopmental disorder: Insights from the fourth reported case
The patient’s care has focused on symptom management and optimizing quality-of-life. He is followed by a complex care team and multiple subspecialists. He is currently hospitalized with acute respiratory distress syndrome requiring tracheostomy placement.
Authors
- April Hall
- Bryn D. Webb (ORCID: https://orcid.org/0000-0001-6174-4677)
- Jadin Heilmann
- Elizabeth Kellom
Institutions
- University of Wisconsin–Madison (US)
Publication Details
- Journal
- Genetics in Medicine Open
- Published
- 2025-01-01
- DOI
- https://doi.org/10.1016/j.gimo.2025.103313
- Primary Topic
- Connective tissue disorders research
- Type
- article
- Field-Weighted Citation Impact
- 0.00