Clinical utility gene card for: von Hippel-Lindau (VHL)

Affiliations

¹ Clinic III-Hematology and Oncology, Medical School of Johannes Gutenberg University, Mainz, Germany.
² Bioscientia, Center for Human Genetics, Ingelheim, Germany.
³ Birmingham Women's Hospital-West Midlands Regional Genetics Laboratory, Birmingham, UK.
⁴ Dr Margarete Fischer-Bosch-Institute of Clinical Pharmacology, Stuttgart and University Tuebingen, Tuebingen, Germany.
⁵ 1] Birmingham Women's Hospital-West Midlands Regional Genetics Laboratory, Birmingham, UK [2] Department of Medical Genetics, University of Cambridge, Cambridge, UK.

Jochen Decker et al. Eur J Hum Genet. 2014 Apr.

. 2014 Apr;22(4).

doi: 10.1038/ejhg.2013.180. Epub 2013 Aug 28.

¹ Clinic III-Hematology and Oncology, Medical School of Johannes Gutenberg University, Mainz, Germany.
² Bioscientia, Center for Human Genetics, Ingelheim, Germany.
³ Birmingham Women's Hospital-West Midlands Regional Genetics Laboratory, Birmingham, UK.
⁴ Dr Margarete Fischer-Bosch-Institute of Clinical Pharmacology, Stuttgart and University Tuebingen, Tuebingen, Germany.
⁵ 1] Birmingham Women's Hospital-West Midlands Regional Genetics Laboratory, Birmingham, UK [2] Department of Medical Genetics, University of Cambridge, Cambridge, UK.

No abstract available

References

1. Latif F, Tory K, Gnarra J, et al. Identification of the von Hippel–Lindau disease tumor suppressor gene. Science. 1993;260:1317–1320. - PubMed
1. Zbar B, Kishida T, Chen F, et al. Germline mutations in the Von Hippel–Lindau disease (VHL) gene in families from North America, Europe, and Japan. Hum Mutat. 1996;8:348–357. - PubMed
1. Decker HJ, Brauch H. Von Hippel–Lindau tumor suppressor gene. Berlin, Heidelberg, Germany: Springer; Encyclopedia of Cancer. 2009;Vol 4:pp 3185–3191.
1. McNeill A, Rattenberry E, Barber R, et al. Genotype-phenotype correlations in VHL exon deletions. Am J Med Genet. 2009;A 149A:2147–2151. - PubMed
1. Maher ER, Neumann HP, Richard S. von Hippel–Lindau disease: a clinical and scientific review. Eur J Hum Genet. 2011;19:617–623. - PMC - PubMed