Article
[von Hippel-Lindau syndrome: molecular diagnosis of two Lebanese families and analysis of the genotype-phenotype correlation].
Le Journal medical libanais. The Lebanese medical journal - 1 Jan 2000
Medlej-Hashim Myrna, Leclercq Annette, Salem Nabiha, Moukarzel Maroun, Merhej Sleiman, Pigny Pascal, Megarbane André
Abstract excerpt
The von Hippel-Lindau syndrome (VHL) is a dominantly transmitted hereditary disorder associating multisystemic tumors affecting mainly the central nervous system, the kidneys, the pancreas, as well as pheochromocytomas. Mutations of the tumor suppressor gene VHL on chromosome 3 are responsible for the disease. This article reports for the first time the study of two Lebanese VHL affected families, presenting...
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