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

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. PATIENT CONCERNS: A 31-year-old woman presenting a sh...

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Detalles Bibliográficos
Autores principales: Shi, Xiulin, Huang, Caoxin, Xiao, Fangsen, Liu, Wei, Zeng, Jinyang, Li, Xuejun
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Wolters Kluwer Health 2017
Materias:
4300
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5815678/
https://www.ncbi.nlm.nih.gov/pubmed/29390266
http://dx.doi.org/10.1097/MD.0000000000008730

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5815678/
https://www.ncbi.nlm.nih.gov/pubmed/29390266
http://dx.doi.org/10.1097/MD.0000000000008730

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