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Article

Disruption of the PDGFB gene in a 1;22 translocation patient does not cause Costello syndrome.

Genomics - 1 May 2004

Sutajová Markéta, Neukirchen Ursula, Meinecke Peter, Czeizel Andrew E, Tímár László, Sólyom Enikö, Gal Andreas, Kutsche Kerstin

Abstract excerpt

We studied a female patient initially diagnosed with Costello syndrome who carries an apparently balanced translocation, t(1;22) (q24.3;q13.1). Molecular characterization of the translocation revealed a mosaic of two derivative chromosomes 1 in her peripheral blood lymphocytes, in one of which the coding region of the platelet-derived growth factor (PDGFB; chromosome 22q13.1) gene was disrupted. Both the initial...

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Share to Abnormalities, Multiple
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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Share to Chromosomes, Human, Pair 22

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Source

Identifiers

PMID: 15081117
DOI: 10.1016/j.ygeno.2003.10.012

Genes

PDGFB
PDGFA
PDGFC
PDGFD
PDGFRA
PDGFRB

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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