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A novel germline mutation of the VHL gene in a Greek family with Von Hippel–Lindau disease
Von Hippel–Lindau disease (VHL) is an autosomal dominant disorder, caused by mutations of the VHL gene showing a strong genotype–phenotype correlation. The present report concerns a 16-year-old girl with VHL (retinal, spinal cord and cerebellar haemangioblastomas and pancreatic cysts), her father (r...
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| Autors principals: | , , , , , , , |
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| Format: | Artigo |
| Idioma: | Inglês |
| Publicat: |
BMJ Publishing Group
2009
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| Matèries: | |
| Accés en línia: | https://ncbi.nlm.nih.gov/pmc/articles/PMC3029452/ https://ncbi.nlm.nih.gov/pubmed/21853002 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1136/bcr.02.2009.1574 |
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