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. 2005 Feb;42(2):e9. doi: 10.1136/jmg.2004.027375

NPHP1 gene deletion is a rare cause of Joubert syndrome related disorders

M Castori, E Valente, M Donati, S Salvi, E Fazzi, E Procopio, T Galluccio, F Emma, B Dallapiccola, E Bertini, I the
PMCID: PMC1735997  PMID: 15689444

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