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Pycnodysostosis

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

Medicine 29390266
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.
Adult Carcinoma, Neuroendocrine Cathepsin K Female Humans Mutation Neck Dissection Pycnodysostosis Thyroid Neoplasms Thyroidectomy
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