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...

Descripció completa

Dades bibliogràfiques

Autors principals:	Dennis T. Famili, Gehad Elghazali, Emanuela Argili, Russell P. Saneto, Michael Harris, Oleg Gerasimenko, Julia Gerasimenko, Manolis Fanto, Hormos Salimi Dafsari, Heinz Jungbluth
Format:	Artigo
Idioma:	Inglês
Publicat:	Elsevier 2025-12-01
Col·lecció:	Molecular Genetics and Metabolism Reports
Matèries:	Pancreatitis EPG5 Autophagy Intracellular trafficking
Accés en línia:	http://www.sciencedirect.com/science/article/pii/S2214426925000886
Etiquetes:	Afegir etiqueta Sense etiquetes, Sigues el primer a etiquetar aquest registre!