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Novel gene mutation in von Hippel-Lindau disease – a report of two cases
BACKGROUND: Von Hippel-Lindau (VHL) syndrome is a familial autosomal dominant hereditary neoplastic disease caused by mutations in the VHL gene. Approximately 503 kinds of VHL gene mutations have been reported. Different types of mutations manifest various clinical phenotypes, from benign to maligna...
| Autores principales: | , , , |
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| Formato: | Online Artículo Texto |
| Lenguaje: | English |
| Publicado: |
BioMed Central
2019
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| Materias: | |
| Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6902464/ https://www.ncbi.nlm.nih.gov/pubmed/31823746 http://dx.doi.org/10.1186/s12881-019-0930-8 |