[Congenital hypertrophy of retinal pigment epithelium: a marker in familial adenomatous polyposis].

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Article

[Congenital hypertrophy of retinal pigment epithelium: a marker in familial adenomatous polyposis].

Journal francais d'ophtalmologie - 1 Apr 1999

Szwarcberg J, Limacher J M, Fricker J P, Flament J

Abstract excerpt

PURPOSE: Familial adenomatous polyposis (FAP) is an inherited autosomal dominant disorder with marked propensity for malignant transformation. The potential for congenital hypertrophy of retinal pigment epithelium (CHRPE) as a phenotypic marker for this disease is recognized. MATERIAL AND METHODS: We report our investigations in 11 families with familial adenomatous polyposis. CHRPE characteristics were described...

Topics

Adenomatous Polyposis Coli
Adolescent
Adult
Child
Child, Preschool
DNA Mutational Analysis
Female
Genetic Markers
Genotype
Humans
Hypertrophy
Male

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Pedigree

Phenotype

Pigment Epithelium of Eye

Risk Factors

Sensitivity and Specificity

Severity of Illness Index

Source

Open in PubMed

Identifiers

PMID: 10337595

Genes

Provenance

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