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Recurrent Germline Mutations of CHEK2 as a New Susceptibility Gene in Patients with Pheochromocytomas and Paragangliomas.

Yinjie GaoChao LingXiaosen MaHuiping WangYunying CuiMin NieAnli Tong
Published in: International journal of endocrinology (2021)
For the first time, CHEK2 was identified as a susceptibility gene for PPGLs. However, the penetrance of CHEK2 gene with genotype-phenotype correlation needs to be investigated.
Keyphrases
  • copy number
  • genome wide
  • genome wide identification
  • transcription factor