1. Antignac C, Arduy CH, Beckmann JS et al. (1993) A gene for familial juvenile nephronophthisis (recessive medullary cystic kidney disease) maps to chromosome 2p. Nat Genet 3: 342–345
2. Antignac C, Kleinknecht C, Habib R (1998) Nephronophthisis. In: Davison AM, Cameron JS, Grünfeld JP, Kerr DNS, Ritz E, Winearls CG (eds) Oxford textbook of clinical nephrology. Oxford University Press, Oxford, pp 2417–2426
3. Betz R, Rensing C, Otto E, Mincheva A, Zehnder D, Lichter P, Hildebrandt F (2000) Children with ocular motor apraxia type Cogan carry deletions in the gene (NPHP1) for juvenile nephronophthisis. J Pediatr 136: 828–831
4. Caridi G, Dagnino M, Gusmano R et al. (2000) Clinical and molecular heterogeneity of juvenile nephronophthisis in Italy: Insights from molecular screening. Am J Kidney Dis 35: 44–51
5. Cohen AH, Hoyer JR (1986) Nephronophthisis—a primary tubular basement membrane defect. Lab Invest 55: 564–572