CDC73 germline mutation in a family with mixed epithelial and stromal tumors

OBJECTIVE: To describe a family in which three members presented with mixed epithelial tumor of the kidney (MEST) and were found to possess a germline mutation in CDC73, a gene which is associated with hyperparathyroidism-jaw tumor syndrome (HPT-JT). MATERIALS AND METHODS: Blood and tumor DNA from t...

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Vydáno v:Urology
Hlavní autoři: Vocke, Cathy D., Ricketts, Christopher J., Ball, Mark W., Schmidt, Laura S., Metwalli, Adam R., Middelton, Lindsay A., Killian, J. Keith, Khan, Javed, Meltzer, Paul S., Simonds, William F., Merino, Maria J., Linehan, W. Marston
Médium: Artigo
Jazyk:Inglês
Vydáno: 2018
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Article
On-line přístup:https://ncbi.nlm.nih.gov/pmc/articles/PMC6382532/
https://ncbi.nlm.nih.gov/pubmed/30452964
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.urology.2018.11.013
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