Pycnodysostosis with novel gene mutation and sporadic medullary thyroid carcinoma: A case report.

Journal: Medicine
Published Date: Dec 1, 2017

Abstract

RATIONALE: Pycnodysostosis is a rare autosomal recessive skeletal dysplasia caused by a mutation in the cathepsin K encoded by cathepsin K gene (CTSK). Medullary thyroid carcinoma (MTC) is also a relatively rare type of primary thyroid carcinoma.

Authors

  • Xiulin Shi
    Department of Endocrinology and Diabetes Xiamen Diabetes Institute, The First Affiliated Hospital of Xiamen University, Xiamen, Fujian, China.
  • Caoxin Huang
  • Fangsen Xiao
  • Wei Liu
    Department of Radiation Oncology, Mayo Clinic, Scottsdale, AZ, United States.
  • Jinyang Zeng
  • Xuejun Li

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