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Four generations of SDHB-related disease: complexities in management

SDHB mutations are linked to the familial paraganglioma syndrome type 4 (PGL4), which is associated with predominantly extra-adrenal disease and has high metastatic rates. Despite the lower penetrance rates in carriers of SDHB mutations compared to mutations in other paraganglioma susceptibility gen...

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Detalles Bibliográficos
Autores principales: Srirangalingam, U., LeCain, M., Tufton, N., Akker, S. A., Drake, W. M., Metcalfe, K.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Springer Netherlands 2016
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5357476/
https://www.ncbi.nlm.nih.gov/pubmed/27896548
http://dx.doi.org/10.1007/s10689-016-9946-9