AIMC Topic: Pycnodysostosis
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Pycnodysostosis with novel gene mutation and sporadic medullary thyroid carcinoma: A case report.
Medicine
Dec 1, 2017
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.
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