| Chapter title |
Von Hippel Lindau syndrome.
|
|---|---|
| Chapter number | 22 |
| Book title |
Diseases of DNA Repair
|
| Published in |
Advances in experimental medicine and biology, December 2009
|
| DOI | 10.1007/978-1-4419-6448-9_22 |
| Pubmed ID | |
| Book ISBNs |
978-1-4419-6447-2, 978-1-4419-6448-9
|
| Authors |
Kim JJ, Rini BI, Hansel DE, Jenny J. Kim, Brian I. Rini, Donna E. Hansel, Kim, Jenny J., Rini, Brian I., Hansel, Donna E. |
| Abstract |
Von Hippel-Lindau syndrome (VHLS) is an autosomal dominant familial cancer syndrome arising from germ-line inactivation of the VHL gene on the short arm of chromosome 3. VHLS manifests in a myriad of hyper-vascular tumors of both benign and malignant nature. Incidence of VHLS is roughly 1 in 36,000 live births and has over 90% penetrance by the age of 65. Improved understanding of the natural history and biology of VHLS has led to the introduction of screening protocols, early interventions and improved treatments, all of which resulted in a substantially improved prognosis for this disease. Further details regardingvariegated molecular pathways and mechanisms ofVHLS are emerging with the subsequent advent of novel treatment protocols that are currently in clinical trials. |
Mendeley readers
Geographical breakdown
| Country | Count | As % |
|---|---|---|
| Unknown | 15 | 100% |
Demographic breakdown
| Readers by professional status | Count | As % |
|---|---|---|
| Other | 3 | 20% |
| Student > Bachelor | 2 | 13% |
| Researcher | 2 | 13% |
| Student > Master | 1 | 7% |
| Lecturer | 1 | 7% |
| Other | 2 | 13% |
| Unknown | 4 | 27% |
| Readers by discipline | Count | As % |
|---|---|---|
| Medicine and Dentistry | 7 | 47% |
| Pharmacology, Toxicology and Pharmaceutical Science | 1 | 7% |
| Psychology | 1 | 7% |
| Agricultural and Biological Sciences | 1 | 7% |
| Unknown | 5 | 33% |