La polykystose rénale autosomique récessive dans une famille Tunisienne : Corrélation génotypephénotype ?
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Références
Michel-Calemard L, Dijoud F, Till M, et al. Pseudoexon activation in the PKHD1 gene: a French founder intronic mutation IVS46+653A>G causing severe autosomal recessive polycystic kidney disease. Clin Genet 2009; 75: 203-6
Bergamm C, Kupper F, Dornia C et al. Algorithm for efficient PKHD1 mutations screening in autosomal recessive polycystic kidney disease. Hum Mutat 2005 ; 25 :255-31
Roy S, Dillion MJ, Trompeter RS, Barratt T. Autosomal recessive polycystic Kidney disease: long term outcome of neonatal survivors. Pediatr Nephrol 1997; 11:302-6
Zerres K, Rudnik-Schonebom S, Deget F, Holtkamp U, Schares K. Autosomal recessive polycystic Kidney disease in 115 children: clinical presentation, course and influence of gender. Acta paediatr 1996; 85: 437-45.
