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 ...Expand abstract
- Publication status:
- Peer review status:
- Peer reviewed
- Publisher's version
- Copyright holder:
- Fenwick et al.
- Copyright date:
- © 2011 Fenwick et al; licensee BioMed Central Ltd. This is an Open Access article distributed under the terms of the Creative Commons Attribution License (http://creativecommons.org/licenses/by/2.0), which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited.
A deletion of FGFR2 creating a chimeric IIIb/IIIc exon in a child with Apert syndrome.
Views and Downloads
If you are the owner of this record, you can report an update to it here: Report update to this record