A deletion of FGFR2 creating a chimeric IIIb/IIIc exon in a child with Apert syndrome.
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. H...
| Main Authors: | , , , |
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| Format: | Journal article |
| Language: | English |
| Published: |
BioMed Central
2011
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