Case Report: Aggressive neural crest tumors in a child with familial von Hippel Lindau syndrome associated with a germline VHL mutation (c.414A>G) and a novel KIF1B gene mutation

INTRODUCTION: Von Hippel Lindau (VHL) syndrome is caused by an autosomal dominant hereditary or sporadic germline mutation of the VHL gene with more than five hundred pathogenic mutations identified. Pheochromocytomas and rarely paragangliomas occur in 10-50% of patients with VHL syndrome usually ar...

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Autores principales: Landen, Lucie, De Leener, Anne, Le Roux, Manon, Brichard, Bénédicte, Aydin, Selda, Maiter, Dominique, Lysy, Philippe A.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Frontiers Media S.A. 2023
Materias:
Endocrinology
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10411570/
https://www.ncbi.nlm.nih.gov/pubmed/37564981
http://dx.doi.org/10.3389/fendo.2023.1204793

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