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
Identification of 99 novel mutations in a worldwide cohort of 1,056 patients with a nephronophthisis-related ciliopathy.
Halbritter J et al.
Human Genetics, 2013
Renal-hepatic-pancreatic dysplasia: a sibship with skeletal and central nervous system anomalies and NPHP3 mutation.
Copelovitch L et al.
American Journal of Medical Genetics. Part A, 2013
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