Associated Papers
Renal-hepatic-pancreatic dysplasia-1 with a novel NPHP3 genotype: a case report and review of the literature.
Zhu H et al.
Bmc Pediatrics, 2022
Refining Kidney Survival in 383 Genetically Characterized Patients With Nephronophthisis.
König JC et al.
Kidney International Reports, 2022
36090483 (PubMed )
Supplement: mmc1.pdf
Failure to Thrive, Jaundice, and Polyuria in Early Infancy: Common Presentation with an Uncommon Lethal Etiology.
Sharma S
Journal of Pediatric Genetics, 2020
Genetic basis of human left-right asymmetry disorders.
Deng H et al.
Expert Reviews in Molecular Medicine, 2015
Caroli disease, bilateral diffuse cystic renal dysplasia, situs inversus, postaxial polydactyly, and preauricular fistulas: a ciliopathy caused by a homozygous NPHP3 mutation.
Calinescu-Tuleasca AM et al.
European Journal of Pediatrics, 2013
Loss of nephrocystin-3 function can cause embryonic lethality, Meckel-Gruber-like syndrome, situs inversus, and renal-hepatic-pancreatic dysplasia.
Bergmann C et al.
American Journal of Human Genetics, 2008
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