Caroli disease, bilateral diffuse cystic renal dysplasia, situs inversus, postaxial polydactyly, and preauricular fistulas: a ciliopathy caused by a homozygous NPHP3 mutation - Calinescu-Tuleasca, A M; Bottani, A; Rougemont, A L (Eur J Pediatr, 2011)
Aug 16. [Epub ahead of print]