Pancreatic involvement in EPG5-related disorders
Vici syndrome is a severe neurodevelopmental multisystem disorder characterized by callosal agenesis, cataracts, cardiomyopathy, combined immunodeficiency and hypopigmentation. There may be additional variable involvement of other organs. VS is caused by recessive mutations in EPG5, encoding a tethe...
Gespeichert in:
| Hauptverfasser: | , , , , , , , , , |
|---|---|
| Format: | Artigo |
| Sprache: | Inglês |
| Veröffentlicht: |
Elsevier
2025-12-01
|
| Schriftenreihe: | Molecular Genetics and Metabolism Reports |
| Schlagworte: | |
| Online-Zugang: | http://www.sciencedirect.com/science/article/pii/S2214426925000886 |
| Tags: |
Keine Tags, Fügen Sie das erste Tag hinzu!
|