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. 2008 Jul 8;24(12):2333–2344. doi: 10.1007/s00467-008-0840-z

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© IPNA 2008

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Fig. 4 — Genes implicated in nephronophthisis, retinitis, and Joubert syndrome. Different associations between these syndromes and the corresponding mutated genes. The most frequently mutated genes are indicated in large characters. NPHP7 and NPHP9 genes are not represented because of their low mutation rate. Extrarenal disorders associated with mutation in the NPHP2 gene are not indicated. Two patients with NPHP8 mutations and mild retinitis have been reported [34, 74]