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A deletion of FGFR2 creating a chimeric IIIb/IIIc exon in a child with Apert syndrome.

Abstract:

BACKGROUND: Signalling by fibroblast growth factor receptor type 2 (FGFR2) normally involves a tissue-specific alternative splice choice between two exons (IIIb and IIIc), which generates two receptor isoforms (FGFR2b and FGFR2c respectively) with differing repertoires of FGF-binding specificity. Here we describe a unique chimeric IIIb/c exon in a patient with Apert syndrome, generated by a non-allelic homologous recombination event. CASE PRESENTATION: We present a child with Apert syndrome ...

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Publication status:
Published
Peer review status:
Peer reviewed
Version:
Publisher's version

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Publisher copy:
10.1186/1471-2350-12-122

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Institution:
University of Oxford
Role:
Author
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Institution:
University of Oxford
Department:
Oxford, MSD, RDM, Molecular Medicine, Biomedical Research Centre
Role:
Author
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Funding agency for:
Wilkie, AO
Publisher:
BioMed Central Ltd. Publisher's website
Journal:
BMC medical genetics Journal website
Volume:
12
Issue:
1
Pages:
122
Publication date:
2011-01-01
DOI:
EISSN:
1471-2350
ISSN:
1471-2350
URN:
uuid:7a0757a2-fe56-42f0-8de1-aec1395b5b7b
Source identifiers:
192876
Local pid:
pubs:192876

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