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...

Disgrifiad llawn

Wedi'i Gadw mewn:
Manylion Llyfryddiaeth
Prif Awduron: Maher, E R, Webster, A R, Richards, F M, Green, J S, Crossey, P A, Payne, S J, Moore, A T
Fformat: Artigo
Iaith:Inglês
Cyhoeddwyd: 1996
Pynciau:
Research Article
Mynediad Ar-lein:https://ncbi.nlm.nih.gov/pmc/articles/PMC1050584/
https://ncbi.nlm.nih.gov/pubmed/8730290
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