Familial craniosynostosis due to Pro250Arg mutation in the fibroblast growth factor receptor 3 gene.
Hughes
J
J
Belfast City Hospital Trust, Northern Ireland Regional Genetics Service.
Nevin
N C
NC
Morrison
P J
PJ
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*
D017468:Receptors, Fibroblast Growth Factor; C496365:FGFR3 protein, human; D011505:Protein-Tyrosine Kinases; D051498:Receptor, Fibroblast Growth Factor, Type 3