A deletion of <it>FGFR2 </it>creating a chimeric IIIb/IIIc exon in a child with Apert syndrome
<p>Abstract</p> <p>Background</p> <p>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) wi...
Main Authors: | Klatt Regan EM, Bowdin Sarah C, Fenwick Aimee L, Wilkie Andrew OM |
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Format: | Article |
Language: | English |
Published: |
BMC
2011-09-01
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Series: | BMC Medical Genetics |
Online Access: | http://www.biomedcentral.com/1471-2350/12/122 |
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