Heterozygous P250L mutation of fibroblast growth factor receptor 3 in a case of isolated craniosynostosis.
D019943:Amino Acid Substitution / Q000235:genetics*; D002675:Child, Preschool; D003393:Cranial Sutures / Q000737:chemistry / Q000473:pathology; D003398:Craniosynostoses / Q000235:genetics*; D005091:Exons / Q000235:genetics; D005260:Female; D005346:Fibroblast Growth Factors / Q000378:metabolism; D006580:Genetic Carrier Screening; D006801:Humans; D007930:Leucine / Q000235:genetics; D009154:Mutation / Q000235:genetics*; D011392:Proline / Q000235:genetics; D011505:Protein-Tyrosine Kinases; D051498:Receptor, Fibroblast Growth Factor, Type 3; D017468:Receptors, Fibroblast Growth Factor / Q000235:genetics*
D017468:Receptors, Fibroblast Growth Factor; D005346:Fibroblast Growth Factors; D011392:Proline; C496365:FGFR3 protein, human; D011505:Protein-Tyrosine Kinases; D051498:Receptor, Fibroblast Growth Factor, Type 3; D007930:Leucine