Specific genetic aberrations of parathyroid in Chinese patients with tertiary hyperparathyroidism using whole-exome sequencing.

Lei Li, Qixuan Sheng,Huajin Zeng, Wei Li, Qiang Wang, Guanjun Ma,Xinyun Xu,Ming Qiu,Wei Zhang,Chengxiang Shan

Frontiers in endocrinology（2023）

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摘要

This study provides a comprehensive landscape of the genetic characteristics of hyperplastic parathyroids in THPT, highlighting the involvement of multiple genes and pathways in the development and progression of this disease. The dominant mutations identified in our study depicted new insights into the pathogenesis and molecular characteristics of THPT.

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关键词

tertiary hyperparathyroidism, whole-exome sequencing, somatic mutation, driver mutation, copy number variants

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