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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...

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Detalles Bibliográficos
Autores principales: Hes, Frederik J, Höppener, Jo WM, Luijt, Rob B van der, Lips, Cornelis JM
Formato: Texto
Lenguaje:English
Publicado: BioMed Central 2005
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.
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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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