Germline Mutation in KIF1Bβ Gene Associated with Loss of Heterozygosity: Usefulness of Next-Generation Sequencing in the Genetic Screening of Patients with Pheochromocytoma

Germline Mutation in KIF1Bβ Gene Associated with Loss of Heterozygosity: Usefulness of Next-Generation Sequencing in the Genetic Screening of Patients with Pheochromocytoma

The genetic approach of pheochromocytomas and paragangliomas has changed in the last two decades. Nowadays, we know that more than 40% of patients have a germline mutation in one of the susceptibility genes identified to date. Our aim is to underline how genetic diagnosis by next-generation sequenci...

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Main Authors: Giuseppina De Filpo, Elisa Contini, Viola Serio, Andrea Valeri, Massimiliano Chetta, Daniele Guasti, Daniele Bani, Massimo Mannelli, Elena Rapizzi, Michaela Luconi, Mario Maggi, Tonino Ercolino, Letizia Canu
Format: Article
Language:English
Published: Wiley 2020-01-01
Series:International Journal of Endocrinology
Online Access:http://dx.doi.org/10.1155/2020/3671396
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http://dx.doi.org/10.1155/2020/3671396

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