Caroli disease, bilateral diffuse cystic renal dysplasia, situs inversus, postaxial polydactyly, and preauricular fistulas: a ciliopathy caused by a homozygous NPHP3 mutation
Titel:
Caroli disease, bilateral diffuse cystic renal dysplasia, situs inversus, postaxial polydactyly, and preauricular fistulas: a ciliopathy caused by a homozygous NPHP3 mutation
Auteur:
Calinescu-Tuleasca, Ana-Maria Bottani, Armand Rougemont, Anne-Laure Birraux, Jacques Gubler, Marie-Claire Coultre, Claude Le Majno, Pietro Mentha, Gilles Girardin, Eric Belli, Dominique Wildhaber, Barbara E.