Effects of Germline VHL Deficiency on Growth, Metabolism, and Mitochondria

Silverio Perrotta,Domenico Roberti,Debora Bencivenga,Paola Antonia Corsetto,Katie A. O’Brien,Martina Caiazza,Emanuela Stampone,Leanne Allison,Roland A. Fleck,Saverio Scianguetta,Immacolata Tartaglione,Peter A. Robbins,Maddalena Casale,James A. West,Clara Franzini-Armstrong,Julian L. Griffin,Angela Maria Rizzo,Antonio Agostino Sinisi,Andrew J. Murray,Adriana Borriello,Federico Formenti,Fulvio Della Ragione

Effects of Germline VHL Deficiency on Growth, Metabolism, and Mitochondria

2020

Summary Mutations in VHL, which encodes von Hippel–Lindau tumor suppressor (VHL), are associated with divergent diseases. We describe a patient with marked erythrocytosis and prominent mitochondria...

Keywords:

Cancer research
Germline
Metabolism
Suppressor
Surgery
Diabetes mellitus
Mitochondrion
Medicine

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