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Article

Phenotypic and molecular characterisation of a de novo 5q deletion that includes the APC gene.

Journal of human genetics - 1 Jan 2006

Ofner Lisa, Raedle Jochen, Windpassinger Christian, Schwarzbraun Thomas, Kroisel Peter M, Wagner Klaus, Petek Erwin

Abstract excerpt

We report on a 12-year-old female patient with mild dysmorphic signs, including bilateral epicanthal folds, low-set dysplastic ears, a short nose with anteverted nostrils, conically shaped fingers, generalised increase of subcutaneous fat, multiple fine venous teleangiectasia on her back, mild pectus carinatum, and a general muscular hypotonia. Cytogenetic analysis and fluorescence in situ hybridisation (FISH)...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 16365682
DOI: 10.1007/s10038-005-0333-x

Genes

APC
MCC

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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