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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%...
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 |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
MDPI
2021
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Materias: | |
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 |
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