Mutations affecting multiple functional domains of FGFR3 cause different skeletal dysplasias: a personal retrospective in honor of John Wasmuth.
Cohn
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Ahmanson Department of Pediatrics Steven Spielberg Pediatric Research Center, Cedars-Sinai Research Institute, Los Angeles, California 90048, USA.
D000818:Animals; D002356:Cartilage / Q000502:physiology; D005826:Genetics, Medical / Q000266:history; D049673:History, 20th Century; D006801:Humans; D051379:Mice; D018345:Mice, Knockout; D009154:Mutation; D010009:Osteochondrodysplasias / Q000235:genetics* / Q000378:metabolism; D017354:Point Mutation; D011505:Protein-Tyrosine Kinases; D051498:Receptor, Fibroblast Growth Factor, Type 3; D017468:Receptors, Fibroblast Growth Factor / Q000096:biosynthesis / Q000235:genetics* / Q000266:history; D015398:Signal Transduction
D017468:Receptors, Fibroblast Growth Factor; C496365:FGFR3 protein, human; C496366:Fgfr3 protein, mouse; D011505:Protein-Tyrosine Kinases; D051498:Receptor, Fibroblast Growth Factor, Type 3