No abstract available
MeSH terms
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Abnormalities, Multiple / genetics*
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Child, Preschool
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Face / abnormalities*
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Humans
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Male
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Purine-Pyrimidine Metabolism, Inborn Errors / genetics*
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Ribose-Phosphate Pyrophosphokinase / genetics*
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Syndrome
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Uric Acid / blood*
Substances
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Uric Acid
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Ribose-Phosphate Pyrophosphokinase