Associated Papers
Clinical exome sequencing efficacy and phenotypic expansions involving non-isolated congenital anomalies of kidney and urinary tract (CAKUT+).
Rivera-Munoz EA et al.
European Journal of Human Genetics : Ejhg, 2025
40913078 (PubMed )
Supplement: NIHMS2114636-supplement-Supplemental_Table_S1.xlsx › Table_S1
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
A discarded synonymous variant in NPHP3 explains nephronophthisis and congenital hepatic fibrosis in several families.
Olinger E et al.
Human Mutation, 2021
Failure to Thrive, Jaundice, and Polyuria in Early Infancy: Common Presentation with an Uncommon Lethal Etiology.
Sharma S
Journal of Pediatric Genetics, 2020
A familial case of severe infantile nephronophthisis explained by oligogenic inheritance.
Penchev V et al.
European Journal of Medical Genetics, 2017
NPHP3 mutations are associated with neonatal onset multiorgan polycystic disease in two siblings.
Leeman KT et al.
Journal of Perinatology : Official Journal of the California Perinatal Association, 2014
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
Lethal cystic kidney disease in Amish neonates associated with homozygous nonsense mutation of NPHP3.
Simpson MA et al.
American Journal of Kidney Diseases : the Official Journal of the National Kidney Foundation, 2009
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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