Effects of germline VHL deficiency on growth, metabolism, and mitochondria

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 mitochondrial alterations associated with a severe germline VHL deficiency due to homozygosity for a novel synonymous mutat...

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Bibliographic Details
Main Authors:	Perrotta, S, Roberti, D, Bencivenga, D, Corsetto, P, O’Brien, KA, Caiazza, M, Stampone, E, Allison, L, Fleck, RA, Scianguetta, S, Tartaglione, I, Robbins, PA, Casale, M, West, JA, Franzini-Armstrong, C, Griffin, JL, Rizzo, AM, Sinisi, AA, Murray, AJ, Borriello, A, Formenti, F, Della Ragione, F
Format:	Journal article
Language:	English
Published:	Massachusetts Medical Society 2020

Effects of germline VHL deficiency on growth, metabolism, and mitochondria

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