A case of carotid body paraganglioma and haemangioblastoma of the spinal cord in a patient with the N131K missense mutation in the VHL gene

The article describes paraganglioma case in woman with von Hippel–Lindau disease. She was found to be a carrier of a rare germline mutation in the VHL gene (393C>A; N131K). The patient developed large, untypical for von Hippel–Lindau disease, carotid body paraganglioma at the common carotid arter...

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Detalles Bibliográficos
Autores principales: Majchrzak, Krzysztof, Cybulski, Cezary, Bobek-Billewicz, Barbara, Majchrzak, Henryk, Lubiński, Jan
Formato: Texto
Lenguaje:English
Publicado: Springer Milan 2011
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3092932/
https://www.ncbi.nlm.nih.gov/pubmed/21384277
http://dx.doi.org/10.1007/s10072-011-0502-y

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3092932/
https://www.ncbi.nlm.nih.gov/pubmed/21384277
http://dx.doi.org/10.1007/s10072-011-0502-y

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