Rare Germline Mutations Identified by Targeted Next-Generation Sequencing of Susceptibility Genes in Pheochromocytoma and Paraganglioma

CONTEXT: Pheochromocytomas and paragangliomas have a highly diverse genetic background, with a third of the cases carrying a germline mutation in 1 of 14 identified genes. OBJECTIVE: This study aimed to evaluate next-generation sequencing for more efficient genetic testing of pheochromocytoma and pa...

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Detalhes bibliográficos
Publicado no:J Clin Endocrinol Metab
Main Authors: Welander, Jenny, Andreasson, Adam, Juhlin, C. Christofer, Wiseman, Roger W., Bäckdahl, Martin, Höög, Anders, Larsson, Catharina, Gimm, Oliver, Söderkvist, Peter
Formato: Artigo
Idioma:Inglês
Publicado em: Endocrine Society 2014
Assuntos:
JCEM Online: Advances in Genetics
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC5393486/
https://ncbi.nlm.nih.gov/pubmed/24694336
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1210/jc.2013-4375
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