Article
Phenotype-genotype correlations in an extended family with adenomatosis coli and an unusual APC gene mutation.
Diseases of the colon and rectum - 1 Nov 2001
Ponz de Leon M, Varesco L, Benatti P, Sassatelli R, Izzo P, Scarano M I, Rossi G B, Di Gregorio C, Gismondi V, Percesepe A, de Rosa M, Roncucci L
Abstract excerpt
PURPOSE: Genotype-phenotype correlations in familial adenomatous polyposis are only partially understood and, in particular, little is known about the biomolecular characteristics of desmoid tumors, which are one of the most serious and frequent manifestations of familial adenomatous polyposis. In the present study, we describe a family with familial adenomatous polyposis, with peculiar clinical characteristics...
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