ESPE Yearbook of Paediatric Endocrinology

ESPE Yearbook of Paediatric Endocrinology

ISSN 1662-4009 (online)

Published by BioScientifica

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ey0016.8-12 | New Genes | ESPEYB16

8.12. Targeted next-generation sequencing detects rare genetic events in pheochromocytoma and paraganglioma

L Ben Aim , P Pigny , LJ Castro-Vega , A Buffet , L Amar , J Bertherat , D Drui , I Guilhem , E Baudin , C Lussey-Lepoutre , C Corsini , G Chabrier , C Briet , L Faivre , C Cardot-Bauters , J Favier , AP Gimenez-Roqueplo , N Burnichon

To read the full abstract: J Med Genet. 2019 Mar 15. pii: jmedgenet-2018-105714. [Epub ahead of print].Paragangliomas and pheochromocytomas (PPGL) are rare neuroendocrine tumours that can arise either from the adrenal medulla (pheochromocytomas, PCC) or from extra-adrenal paraganglia (paragangliomas, PGL). PPGLs are considered to be the most heritable of human tumours with at least...
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ESPE Yearbook of Paediatric Endocrinology
ISSN 1662-4009 (Online)
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