Late onset of renal disease in nephronophthisis with features of Joubert syndrome type B

Author:

Apostolou Theofanis,Nikolopoulou Nikoletta,Theodoridis Marios,Koumoustiotis Vassilios,Pavlopoulou Ekaterini,Chondros Dimitrios,Billis Antonis

Publisher

Oxford University Press (OUP)

Subject

Transplantation,Nephrology

Reference11 articles.

1. Broyer M, Kleinknecht C. Structural tubulointerstitial disease: nephronophthisis. In: Morgan SH, Grunfeld JP, eds. Inherited Disorders of the Kidney. Oxford University Press, Oxford, 1998; 340–348

2. Saraiva JM, Baraitser M. Joubert syndrome: a review. Am J Med Genet1992; 43: 726–731

3. Antignac C, Arduy CH, Beckmann JS et al. A gene for familial juvenile nephronophthisis (recessive medullary cystic disease) maps to chromosome 2p. Nature Genet1993; 3: 342–345

4. Hildebrandt F, Singh‐Sawhney I, Schnieders B et al. Mapping of a gene for familial juvenile nephronophthisis: refining the map and defining flanking markers on chromosome 2. Am J Hum Genet1993; 53: 1256–1261

5. Christodoulou K, Tsingis M, Stavrou C et al. Chromosome I localization of a gene for autosomal dominant medullary cystic kidney disease. Hum Mol Genet1998; 7: 905–911

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