Three novel germ-line VHL mutations in Hungarian von Hippel-Lindau patients, including a nonsense mutation in a fifteen-year-old boy with renal cell carcinoma

Three novel germ-line VHL mutations in Hungarian von Hippel-Lindau patients, including a nonsense mutation in a fifteen-year-old boy with renal cell carcinoma

<p>Abstract</p> <p>Background</p> <p>Von Hippel-Lindau disease is an autosomal dominantly inherited highly penetrant tumor syndrome predisposing to retinal and central nervous system hemangioblastomas, renal cell carcinoma and phaeochromocytoma among other less frequent...

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Bibliographic Details
Main Authors: Losonczy Gergely, Fazakas Ferenc, Pfliegler György, Komáromi István, Balázs Erzsébet, Pénzes Krisztina, Berta András
Format: Article
Language:English
Published: BMC 2013-01-01
Series:BMC Medical Genetics
Subjects:
Genotype-phenotype correlation
Germline mutation
Renal cell carcinoma
Von Hippel-Lindau disease
Online Access:http://www.biomedcentral.com/1471-2350/14/3

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