No abstract available
Publication types
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Case Reports
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Research Support, Non-U.S. Gov't
MeSH terms
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Abnormalities, Multiple / genetics*
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Craniosynostoses / genetics*
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Craniosynostoses / pathology
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DNA Mutational Analysis
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Female
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Genetic Testing
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Humans
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Intellectual Disability / genetics*
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Male
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Models, Molecular
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Mutation*
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Pedigree
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Protein Structure, Tertiary / genetics
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Receptor, Fibroblast Growth Factor, Type 2 / chemistry
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Receptor, Fibroblast Growth Factor, Type 2 / genetics*
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Skull / abnormalities*
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Skull / pathology
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Syndrome
Substances
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FGFR2 protein, human
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Receptor, Fibroblast Growth Factor, Type 2