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Von Hippel–Lindau Disease

Von Hippel–Lindau disease is an autosomal dominant syndrome which occurs secondary to germline mutations in the VHL tumor suppressor gene, located on chromosome 3. Clinically von Hippel–Lindau disease is characterized by an increased risk of developing simple visceral cysts, most commonly in the pan...

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Bibliografske podrobnosti
izdano v:J Pediatr Genet
Main Authors: Findeis-Hosey, Jennifer J., McMahon, Kelly Q., Findeis, Sarah K.
Format: Artigo
Jezik:Inglês
Izdano: Georg Thieme Verlag KG 2016
Online dostop:https://ncbi.nlm.nih.gov/pmc/articles/PMC4918695/
https://ncbi.nlm.nih.gov/pubmed/27617152
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1055/s-0036-1579757
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