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Xanthinuria, type II Xanthine dehydrogenase and aldehyde oxidase, combined deficiency of [Clinical features: xanthine calculi; hematuria; renal colic] [Inheritance: autosomal recessive] |
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Hereditary xanthinuria type II associated with mental delay, autism, cortical renal cysts, nephrocalcinosis, osteopenia, and hair and teeth defects |
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Journal of Medical Genetics |