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A Case Report of CHEK2 and MUTYH Germline Mutations Associated With Cholangiocarcinoma in a Young Patient
Cholangiocarcinoma (CCA) is a major cause of primary liver carcinoma and has been associated with the penetrance of several germline mutations. We present a 31-year-old female evaluated for left upper quadrant pain and abnormal liver function tests. Ultrasound revealed a nodule in the liver, and bio...
Autores principales: | Rehman, Obaid, Sackfield, Bradley, Thoguluva Chandrasekar, Viveksandeep, Oliver, Jorge, Aswath, Ganesh |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Cureus
2022
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8959066/ https://www.ncbi.nlm.nih.gov/pubmed/35371633 http://dx.doi.org/10.7759/cureus.22631 |
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