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Aggressive mutation in a familial adenomatous polyposis syndrome family: when phenotype guides clinical surveillance

Familial adenomatous polyposis (FAP) is an autosomal dominant genetic condition, caused by mutations in the adenomatous polyposis coli (APC) tumor suppressor gene. Desmoid tumors (DTs) are seen in 15% to 20% of FAP patients. Specific location of mutation serves as a guide to predict colonic and extr...

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Detalhes bibliográficos
Publicado no:J Gastrointest Oncol
Main Authors: Neffa, Florencia, Garcia, Lucia, Della Valle, Adriana, Carusso, Florencia, Vergara, Carolina, Sanchez, Daniel, Sapone, Marta, Silveyra, Noelia, Revello, Ana Laura, Esperon, Patricia
Formato: Artigo
Idioma:Inglês
Publicado em: AME Publishing Company 2018
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Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC6006030/
https://ncbi.nlm.nih.gov/pubmed/29998021
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.21037/jgo.2017.10.06
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