Abnormal spliceform expression associated with splice acceptor mutations in exon IIIc of FGFR2.
Wilkie
Andrew O M
AO
D000168:Acrocephalosyndactylia / Q000235:genetics; D017398:Alternative Splicing; D003398:Craniosynostoses / Q000235:genetics; D005091:Exons / Q000235:genetics*; D005121:Extremities / Q000196:embryology; D005532:Foot Deformities, Congenital / Q000196:embryology / Q000235:genetics; D006228:Hand Deformities, Congenital / Q000196:embryology / Q000235:genetics; D017880:Limb Deformities, Congenital / Q000196:embryology / Q000235:genetics*; D008648:Mesoderm / Q000378:metabolism; D009154:Mutation; D010641:Phenotype; D022821:RNA Splice Sites; D051497:Receptor, Fibroblast Growth Factor, Type 2; D017468:Receptors, Fibroblast Growth Factor / Q000235:genetics*; D009626:Terminology as Topic
D022821:RNA Splice Sites; D017468:Receptors, Fibroblast Growth Factor; D051497:Receptor, Fibroblast Growth Factor, Type 2