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Von Hippel-Lindau Disease
A germline mutation in the Von-Hippel Lindau (VHL) gene predisposes carriers to development of abundantly vascularised tumours in the retina, cerebellum, spine, kidney, adrenal gland and pancreas. Most VHL patients die from the consequences of cerebellar haemangioblastoma or renal cell carcinoma. Th...
Autores principales: | , , , |
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Formato: | Texto |
Lenguaje: | English |
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BioMed Central
2005
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC2837060/ https://www.ncbi.nlm.nih.gov/pubmed/20223044 http://dx.doi.org/10.1186/1897-4287-3-4-171 |
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author | Hes, Frederik J Höppener, Jo WM Luijt, Rob B van der Lips, Cornelis JM |
author_facet | Hes, Frederik J Höppener, Jo WM Luijt, Rob B van der Lips, Cornelis JM |
author_sort | Hes, Frederik J |
collection | PubMed |
description | A germline mutation in the Von-Hippel Lindau (VHL) gene predisposes carriers to development of abundantly vascularised tumours in the retina, cerebellum, spine, kidney, adrenal gland and pancreas. Most VHL patients die from the consequences of cerebellar haemangioblastoma or renal cell carcinoma. The VHL gene is a tumour suppressor gene and is involved in angiogenesis by regulation of the activity of hypoxia-inducible factor 1-α (HIF1-α). Clinical diagnosis of VHL can be confirmed by molecular genetic analysis of the VHL gene, which is informative in virtually all VHL families. A patient with (suspicion for) VHL is an indication for genetic counselling and periodical examination. |
format | Text |
id | pubmed-2837060 |
institution | National Center for Biotechnology Information |
language | English |
publishDate | 2005 |
publisher | BioMed Central |
record_format | MEDLINE/PubMed |
spelling | pubmed-28370602010-03-12 Von Hippel-Lindau Disease Hes, Frederik J Höppener, Jo WM Luijt, Rob B van der Lips, Cornelis JM Hered Cancer Clin Pract Research A germline mutation in the Von-Hippel Lindau (VHL) gene predisposes carriers to development of abundantly vascularised tumours in the retina, cerebellum, spine, kidney, adrenal gland and pancreas. Most VHL patients die from the consequences of cerebellar haemangioblastoma or renal cell carcinoma. The VHL gene is a tumour suppressor gene and is involved in angiogenesis by regulation of the activity of hypoxia-inducible factor 1-α (HIF1-α). Clinical diagnosis of VHL can be confirmed by molecular genetic analysis of the VHL gene, which is informative in virtually all VHL families. A patient with (suspicion for) VHL is an indication for genetic counselling and periodical examination. BioMed Central 2005-11-15 /pmc/articles/PMC2837060/ /pubmed/20223044 http://dx.doi.org/10.1186/1897-4287-3-4-171 Text en |
spellingShingle | Research Hes, Frederik J Höppener, Jo WM Luijt, Rob B van der Lips, Cornelis JM Von Hippel-Lindau Disease |
title | Von Hippel-Lindau Disease |
title_full | Von Hippel-Lindau Disease |
title_fullStr | Von Hippel-Lindau Disease |
title_full_unstemmed | Von Hippel-Lindau Disease |
title_short | Von Hippel-Lindau Disease |
title_sort | von hippel-lindau disease |
topic | Research |
url | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC2837060/ https://www.ncbi.nlm.nih.gov/pubmed/20223044 http://dx.doi.org/10.1186/1897-4287-3-4-171 |
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