Consensus Statement on next-generation-sequencing-based diagnostic testing of hereditary phaeochromocytomas and paragangliomas.

doi:10.1038/nrendo.2016.185

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Consensus Statement on next-generation-sequencing-based diagnostic testing of hereditary phaeochromocytomas and paragangliomas.

Nature reviews. Endocrinology - 1 Apr 2017

Toledo Rodrigo A, Burnichon Nelly, Cascon Alberto, Benn Diana E, Bayley Jean-Pierre, Welander Jenny, Tops Carli M, Firth Helen, Dwight Trish, Ercolino Tonino, Mannelli Massimo, Opocher Giuseppe, Clifton-Bligh Roderick, Gimm Oliver, Maher Eamonn R, Robledo Mercedes, Gimenez-Roqueplo Anne-Paule, Dahia Patricia L M

Abstract excerpt

Phaeochromocytomas and paragangliomas (PPGLs) are neural-crest-derived tumours of the sympathetic or parasympathetic nervous system that are often inherited and are genetically heterogeneous. Genetic testing is recommended for patients with these tumours and for family members of patients with hereditary forms of PPGLs. Due to the large number of susceptibility genes implicated in the diagnosis of inherited...

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PMID: 27857127
DOI: 10.1038/nrendo.2016.185

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