Article
[Genetic analysis of a family with Von Hippel-Lindau syndrome].
Revista espanola de patologia : publicacion oficial de la Sociedad Espanola de Anatomia Patologica y de la Sociedad Espanola de Citologia - 1 Jan 2000
Lafuente-Sanchis Aránzazu, Cuevas José M, Alemany Pilar, Cremades Antonio, Zúñiga Ángel
Abstract excerpt
Von Hippel-Lindau syndrome (VHL) is an autosomal dominant inherited disease associated with mutations in the VHL tumour suppressor gene located on chromosome 3p25. VHL is characterized by the development of multiple malignant and benign tumours in the central nervous system and internal organs, including liver, pancreas and the adrenal gland. More than 823 different mutations of the VHL gene have currently been...
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.