Two independent families with de novo whole APC gene deletion and intellectual disability: a case report

Two independent families with de novo whole APC gene deletion and intellectual disability: a case report

Abstract Background Familial adenomatous polyposis (FAP) is an autosomal dominant colorectal tumour syndrome characterised by the formation of multiple adenomatous polyps throughout the colon. It is important to understand the extracolonic phenotype that characterizes FAP. Most previous case reports...

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Main Authors: Moriya Iwaizumi, Terumi Taniguchi, Risa Kojima, Harumo Osawa, Kyota Tatsuta, Mayu Sakata, Satoshi Osawa, Kiyotaka Kurachi, Ken Sugimoto
Format: Article
Language:English
Published: BMC 2025-01-01
Series:Hereditary Cancer in Clinical Practice
Subjects:
Familial adenomatous polyposis
Intellectual disability
Whole APC deletion
De novo mutation
APC gene
Chromosome 5q deletion
Online Access:https://doi.org/10.1186/s13053-024-00297-1
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https://doi.org/10.1186/s13053-024-00297-1

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