Discover Community Create You

Loading publication...

Noodle always counts identifier-free feature events for service operation. With your permission, Google Analytics can also estimate audience and engagement. Search text, publication identifiers, cookies, IP addresses and browser fingerprints are never included in Noodle's first-party event counters.

Privacy details

Article

Notable intrafamilial phenotypic variability in a kindred with familial adenomatous polyposis and an APC mutation in exon 9.

Gut - 1 Dec 1999

Rozen P, Samuel Z, Shomrat R, Legum C

Abstract excerpt

BACKGROUND: The phenotypic spectrum of familial adenomatous polyposis (FAP) varies from the classic appearance of hundreds of adenomatous colonic polyps in the young adult and early onset colorectal cancer, to the occurrence of sparse adenomas in the older adult, "attenuated" FAP, due to mutations at the 5' or 3' ends of the APC gene. AIMS: To investigate marked intrafamilial phenotypic variation occurring in a...

Read the complete abstract on PubMed

Topics

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

Share to Adenomatous Polyposis Coli
Share to Aged
Share to Aged, 80 and over

Methodology Data sources Editorial policy Privacy Delete account & data About Contact Helena Bioinformatics

Share to Genes, APC

Share to Germ-Line Mutation

Share to Heterozygote

Share to Pedigree

Source

Open in PubMed Open full text

Identifiers

PMID: 10562580
DOI: 10.1136/gut.45.6.829
PMCID: PMC1727742

Genes

APC
FAP

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence. Graph snapshot: 2026-09-29.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Notable intrafamilial phenotypic variability in a kindred with familial adenomatous polyposis and an APC mutation in exon 9.PMID 10562580Read ↗

Phenotypic variability of familial adenomatous polyposis in 11 unrelated families with identical APC gene mutation.Semantic proximity Read ↗

A family with attenuated familial adenomatous polyposis due to a mutation in the alternatively spliced region of APC exon 9.Semantic proximity Read ↗

Genetic and clinical characterisation of familial adenomatous polyposis: a population based study.Semantic proximity Read ↗

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.Semantic proximity Read ↗

Variable phenotype of familial adenomatous polyposis in pedigrees with 3' mutation in the APC gene.Semantic proximity Read ↗

Disease severity and genetic pathways in attenuated familial adenomatous polyposis vary greatly but depend on the site of the germline mutation.Semantic proximity Read ↗

A novel indel in exon 9 of APC upregulates a 'skip exon 9' isoform and causes very severe familial adenomatous polyposis.Semantic proximity Read ↗

Genetic testing and phenotype in a large kindred with attenuated familial adenomatous polyposis.Semantic proximity Read ↗

APC germ-line mutations in southern Spanish patients with familial adenomatous polyposis: genotype-phenotype correlations and identification of eight novel mutations.Semantic proximity Read ↗

Attenuated familial adenomatous polyposis (AFAP). A review of the literature.Semantic proximity Read ↗

American founder mutation for attenuated familial adenomatous polyposis.Semantic proximity Read ↗

Attenuated Familial Adenomatous Polyposis: A Phenotypic Diagnosis but Obsolete Term?Semantic proximity Read ↗

⌁Select a neighboring publication to make it the new centre.