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Novel Pathogenic Germline Variant of the Adenomatous Polyposis Coli (APC) Gene, p.S2627Gfs*12 Identified in a Mild Phenotype of APC-Associated Polyposis: A Case Report
Patient: Male, 80-year-old Final Diagnosis: Attenuated APC-associated polyposis Symptoms: Colon polyps • renal carcinoma Medication: — Clinical Procedure: — Specialty: Genetics OBJECTIVE: Unusual clinical course BACKGROUND: The diagnoses of adenomatous polyposis coli (APC)-associated polyposis condi...
Autores principales: | Koeller, Diane R., Schwartz, Alison, Manning, Danielle K., Dong, Fei, Lindeman, Neal I., Garber, Judy E., Ghazani, Arezou A. |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
International Scientific Literature, Inc.
2020
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7737709/ https://www.ncbi.nlm.nih.gov/pubmed/33303731 http://dx.doi.org/10.12659/AJCR.927293 |
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