title: Familial craniosynostosis due to Pro250Arg mutation in the fibroblast growth factor receptor 3 gene.
authors: Belfast City Hospital Trust, Northern Ireland Regional Genetics Service.
authors: J
authors: J
authors: Hughes
authors: N C
authors: NC
authors: Nevin
authors: P J
authors: PJ
authors: Morrison
mesh_terms: D000015:Abnormalities, Multiple / Q000235:genetics*; D002894:Chromosomes, Human, Pair 4 / Q000235:genetics*; D003398:Craniosynostoses / Q000235:genetics*; D005260:Female; D006801:Humans; D007223:Infant; D009154:Mutation; D010375:Pedigree; D011505:Protein-Tyrosine Kinases; D051498:Receptor, Fibroblast Growth Factor, Type 3; D017468:Receptors, Fibroblast Growth Factor / Q000235:genetics*
chemical_list: D017468:Receptors, Fibroblast Growth Factor; C496365:FGFR3 protein, human; D011505:Protein-Tyrosine Kinases; D051498:Receptor, Fibroblast Growth Factor, Type 3