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.

doi:10.1186/1471-2350-9-101

Article

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.

BMC medical genetics - 26 Nov 2008

Nilbert Mef, Kristoffersson Ulf, Ericsson Mats, Johannsson Oskar, Rambech Eva, Mangell Peter

Abstract excerpt

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 extracolonic manifestations. METHODS: Full genomic sequencing combined with multiplex ligation-dependent probe...

Read the complete abstract on PubMed

Topics

Share this publication in a Topic to start or enrich a Post.

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.

Abstract excerpt

Topics

Related research