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. 2003 Nov;40(11):e121. doi: 10.1136/jmg.40.11.e121

Hereditary xanthinuria type II associated with mental delay, autism, cortical renal cysts, nephrocalcinosis, osteopenia, and hair and teeth defects

R Zannolli, V Micheli, M Mazzei, P Sacco, P Piomboni, E Bruni, C Miracco, M M de Santi, V Terrosi, L Volterrani, L Pellegrini, W Livi, B Lucani, S Gonnelli, A Burlina, G Jacomelli, F Macucci, L Pucci, M Fimiani, J Swift, M Zappella, G Morgese

PMCID: PMC1735325 PMID: 14627688

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