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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Detalles Bibliográficos
Autores principales: Kinyas, S, Ozal, SA, Guclu, H, Gurlu, V, Esgin, H, Gurkan, H
Formato: Online Artículo Texto
Lenguaje:English
Publicado: De Gruyter 2016
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5026270/
https://www.ncbi.nlm.nih.gov/pubmed/27785399
http://dx.doi.org/10.1515/bjmg-2015-0087

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