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Caroli disease, bilateral diffuse cystic renal dysplasia, situs inversus, postaxial polydactyly, and preauricular fistulas: a ciliopathy caused by a homozygous NPHP3 mutation

Calinescu-Tuleasca, Ana-Maria ; Bottani, Armand ; Rougemont, Anne-Laure ; Birraux, Jacques ; Gubler, Marie-Claire ; Le Coultre, Claude ; Majno, Pietro ; Mentha, Gilles ; Girardin, Eric ; Belli, Dominique ; Wildhaber, Barbara

In: European Journal of Pediatrics, 2013, vol. 172, no. 7, p. 877-881