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A novel APC mutation associated with Gardner syndrome in a Chinese family.

Gene - 20 Feb 2024

Zeng Ming, Yao Xinchen, Pan Yuhua, Gu Hongxiang, Xiong Fu, Yin Xuemin, Wu Buling, Chen Ting

Abstract excerpt

Gardner syndrome (GS) is a specific form of familial adenomatous polyposis (FAP), which manifests as colorectal polyps, multiple osteomas and soft tissue tumors, and in the oral cavity as osteomas of the jaws, odontomas, and abnormal tooth counts. The underlying cause of GS is attributed to mutations in the APC gene. Mutations in this gene disrupt the normal functioning of the protein and lead to the development...

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Identifiers

PMID: 38043837
DOI: 10.1016/j.gene.2023.148051

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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