Phenotypic expression in von Hippel-Lindau disease: correlations with germline VHL gene mutations.

Von Hippel-Lindau disease is an autosomal dominantly inherited familial cancer syndrome predisposing to retinal and central nervous system haemangioblastomas, renal cell carcinoma, and phaeochromocytoma. VHL disease shows variable expression and interfamilial differences in predisposition to phaeoch...

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Detalhes bibliográficos
Main Authors: Maher, E R, Webster, A R, Richards, F M, Green, J S, Crossey, P A, Payne, S J, Moore, A T
Formato: Artigo
Idioma:Inglês
Publicado em: 1996
Assuntos:
Research Article
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC1050584/
https://ncbi.nlm.nih.gov/pubmed/8730290
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