MUTATION PATTERNS RELATED TO ENDOSCOPIC FINDINGS FOR FAMILIAL ADENOMATOUS POLYPOSIS. Importance of genetic approach based on a descriptive study

Víctor Argumánez Tello, Sheila Garcia, V. Lorenzo-Zúñiga García,Marco Bustamante, Ignacio Terol,M. García Campos, Pedro López Muñoz,Lídia Argüello,Silvestre Oltra,Vicente Pons

Endoscopy（2023）

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摘要

Aims Familial adenomatous polyposis (FAP) is an autosomal dominant inherited disease. Its phenotype is related to the position of the germline mutation within the APC gene; however, the involvement of the type of mutation in the phenotype is unknown. We aimed to analyze mutation patterns and extracolonic manifestations in colectomized patients with FAP.

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familial adenomatous polyposis,endoscopic findings,mutation patterns,genetic

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