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Broad phenotypic spectrum in familial adenomatous polyposis; from early onset and severe phenotypes to late onset of attenuated polyposis with the first manifestation at age 72

BACKGROUND: Familial adenomatous polyposis (FAP) is typically characterized by multiple colonic polyps and frequent extracolonic features. Whereas the number of colonic polyps has been linked to the APC gene mutation, possible genotype-phenotype correlations largely remain to be defined for the extr...

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Detalles Bibliográficos
Autores principales: Nilbert, Mef, Kristoffersson, Ulf, Ericsson, Mats, Johannsson, Oskar, Rambech, Eva, Mangell, Peter
Formato: Texto
Lenguaje:English
Publicado: BioMed Central 2008
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC2610029/
https://www.ncbi.nlm.nih.gov/pubmed/19036155
http://dx.doi.org/10.1186/1471-2350-9-101