Concurrent germline and somatic mutations in flcn and preliminary exploration of its function: a case report

HIGHLIGHTS

  • who: Tao Wang from the Vanderbilt University, United States have published the research: Concurrent Germline and Somatic Mutations in FLCN and Preliminary Exploration of Its Function: A Case Report, in the Journal: (JOURNAL)
  • what: The authors examined the associations among FLCN mutations, TFEB/TFE3, mTOR and cilia in a patient. Genetic studies have revealed several tumor suppressor genes responsible for the development of RCC, such as VHL, FH, TSC, SDHB, and FLCN, the focus of this study .

SUMMARY

    Birt-Hogg-Dube (BHD) syndrome is characterized by the development of fibrofolliculomas, lung . . .

     

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