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., Birraux J., Gubler M.C., Le Coultre C., Majno P., Mentha G., Girardin E., Belli D. et al., 2013. European Journal of Pediatrics, 172 (7) pp. 877-881. Peer-reviewed.
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