No abstract available
MeSH terms
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Amino Acid Substitution
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Fibroblast Growth Factors / genetics
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Humans
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Mutation, Missense*
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Polymerase Chain Reaction / methods
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Polymorphism, Restriction Fragment Length
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Protein-Tyrosine Kinases*
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Receptor, Fibroblast Growth Factor, Type 3
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Receptors, Fibroblast Growth Factor / genetics*
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Thanatophoric Dysplasia / diagnosis*
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Thanatophoric Dysplasia / genetics*
Substances
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Receptors, Fibroblast Growth Factor
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Fibroblast Growth Factors
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FGFR3 protein, human
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Protein-Tyrosine Kinases
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Receptor, Fibroblast Growth Factor, Type 3