Novel Mutation in APC 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 APC gene. The early diagnosis and identification of high-risk individuals are important because patients have a 100%...

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Detalles Bibliográficos
Autores principales: Antohi, Cristina, Haba, Danisia, Caba, Lavinia, Ciofu, Mihai Liviu, Drug, Vasile-Liviu, Bărboi, Oana-Bogdana, Dobrovăț, Bogdan Ionuț, Pânzaru, Monica-Cristina, Gorduza, Nicoleta Carmen, Lupu, Vasile Valeriu, Dimofte, Doina, Gug, Cristina, Gorduza, Eusebiu Vlad
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2021
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8466590/
https://www.ncbi.nlm.nih.gov/pubmed/34573902
http://dx.doi.org/10.3390/diagnostics11091560

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8466590/
https://www.ncbi.nlm.nih.gov/pubmed/34573902
http://dx.doi.org/10.3390/diagnostics11091560

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