No abstract available
Publication types
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Case Reports
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Letter
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Research Support, Non-U.S. Gov't
MeSH terms
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Abnormalities, Multiple / genetics*
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Achondroplasia / diagnosis*
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Achondroplasia / genetics*
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Adult
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Amino Acid Substitution
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Cartilage / metabolism
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Cartilage Oligomeric Matrix Protein
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Child, Preschool
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Exons
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Extracellular Matrix Proteins / genetics*
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Female
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Genes, Dominant
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Glycoproteins / genetics*
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Humans
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Male
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Matrilin Proteins
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Mutation*
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Osteochondrodysplasias / genetics*
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Sequence Deletion
Substances
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Cartilage Oligomeric Matrix Protein
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Extracellular Matrix Proteins
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Glycoproteins
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Matrilin Proteins
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TSP5 protein, human