Julia Hoefele Ahmet Nayir Moumita Chaki Anita Imm Susan J Allen Edgar A Otto Friedhelm Hildebrandt
10.1007/s00467-011-1761-9
Pediatr Nephrol
2011 Jun;26(6):967-71.
author_manuscript
https://pubmed.ncbi.nlm.nih.gov/21258817/
Adaptor Proteins, Signal Transducing / genetics Gene Deletion Genes, Dominant Kidney Diseases, Cystic / genetics Membrane Proteins / genetics src Homology Domains / genetics
Adaptor Proteins, Signal Transducing / genetics Gene Deletion Genes, Dominant Kidney Diseases, Cystic / genetics Membrane Proteins / genetics src Homology Domains / genetics Case Reports Research Support, N.I.H., Extramural Adolescent Adult Chromosomes, Human, Pair 2 Cytoskeletal Proteins Family Health Female Homozygote Humans Kidney Diseases, Cystic / pathology Kidney Diseases, Cystic / surgery Kidney Failure, Chronic / genetics Kidney Failure, Chronic / pathology Male Pedigree Adaptor Proteins, Signal Transducing Cytoskeletal Proteins Membrane Proteins NPHP1 protein, human
PMC3342573
21258817
Pseudodominant inheritance of nephronophthisis caused by a homozygous NPHP1 deletion
2011