Novel Mutation in <i>APC</i> Gene Associated with Multiple Osteomas in a Family and Review of Genotype-Phenotype Correlations of Extracolonic Manifestations in Gardner Syndrome

Novel Mutation in <i>APC</i> Gene Associated with Multiple Osteomas in a Family and Review of Genotype-Phenotype Correlations of Extracolonic Manifestations in Gardner Syndrome

Gardner syndrome is a neoplasic disease that associates intestinal polyposis and colorectal adenocarcinoma with osteomas and soft tissue tumors determined by germline mutations in the <i>APC</i> gene. The early diagnosis and identification of high-risk individuals are important because p...

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Bibliographic Details
Main Authors: Cristina Antohi, Danisia Haba, Lavinia Caba, Mihai Liviu Ciofu, Vasile-Liviu Drug, Oana-Bogdana Bărboi, Bogdan Ionuț Dobrovăț, Monica-Cristina Pânzaru, Nicoleta Carmen Gorduza, Vasile Valeriu Lupu, Doina Dimofte, Cristina Gug, Eusebiu Vlad Gorduza
Format: Article
Language:English
Published: MDPI AG 2021-08-01
Series:Diagnostics
Subjects:
familial adenomatous polyposis
hereditary
osteomas
genomic variant
Online Access:https://www.mdpi.com/2075-4418/11/9/1560

Internet

https://www.mdpi.com/2075-4418/11/9/1560

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