Whole Exome Sequencing Identifies Novel Genetic Alterations in Patients with Pheochromocytoma/Paraganglioma

Whole Exome Sequencing Identifies Novel Genetic Alterations in Patients with Pheochromocytoma/Paraganglioma

Background Pheochromocytoma and paragangliomas (PPGL) are known as tumors with the highest level of heritability, approximately 30% of all cases. Clinical practice guidelines of PPGL recommend genetic testing for germline variants in all patients. In this study, we used whole exome sequencing to ide...

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Bibliographic Details
Main Authors: Soo Hyun Seo, Jung Hee Kim, Man Jin Kim, Sung Im Cho, Su Jin Kim, Hyein Kang, Chan Soo Shin, Sung Sup Park, Kyu Eun Lee, Moon-Woo Seong
Format: Article
Language:English
Published: Academya Publishing Co. 2020-12-01
Series:Endocrinology and Metabolism
Subjects:
pheochromocytoma
paraganglioma
whole exome sequencing
germ-line mutation
molecular diagnostic techniques
Online Access:http://www.e-enm.org/upload/pdf/enm-2020-756.pdf

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http://www.e-enm.org/upload/pdf/enm-2020-756.pdf

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