No abstract available
MeSH terms
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Abnormalities, Multiple / diagnosis*
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Abnormalities, Multiple / genetics*
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Alleles
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Bone Diseases, Developmental / diagnosis*
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Bone Diseases, Developmental / genetics*
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Child, Preschool
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Facies
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Female
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Genetic Association Studies*
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Genetic Predisposition to Disease*
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Genetic Testing*
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Humans
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Intellectual Disability / diagnosis*
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Intellectual Disability / genetics*
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Mutation Rate
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Neurofibromatosis 1 / diagnosis*
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Neurofibromatosis 1 / genetics*
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Neurofibromin 1 / genetics
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Phenotype
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Tooth Abnormalities / diagnosis*
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Tooth Abnormalities / genetics*
Substances
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NF1 protein, human
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Neurofibromin 1