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Von Hippel-Lindau disease: the clinical manifestations and genetic analysis results of two cases from a single family
von Hippel-Lindau (VHL) disease is an autosomal dominant inherited multi systemic cancer syndrome that is classically associated with neoplasms in multiple organs, and caused by mutations in the VHL gene on chromosome 3p25-p26. Retinal hemangioblastoma (RH) is the most frequent and the earliest clin...
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| Publicado no: | Balkan J Med Genet |
|---|---|
| Main Authors: | , , , , , |
| Formato: | Artigo |
| Idioma: | Inglês |
| Publicado em: |
De Gruyter
2016
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| Assuntos: | |
| Acesso em linha: | https://ncbi.nlm.nih.gov/pmc/articles/PMC5026270/ https://ncbi.nlm.nih.gov/pubmed/27785399 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1515/bjmg-2015-0087 |
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