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...

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Bibliographic Details
Published in:Am J Case Rep
Main Authors: Koeller, Diane R., Schwartz, Alison, Manning, Danielle K., Dong, Fei, Lindeman, Neal I., Garber, Judy E., Ghazani, Arezou A.
Format: Artigo
Language:Inglês
Published: International Scientific Literature, Inc. 2020
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Articles
Online Access:https://ncbi.nlm.nih.gov/pmc/articles/PMC7737709/
https://ncbi.nlm.nih.gov/pubmed/33303731
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.12659/AJCR.927293
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