Ontology highlight
ABSTRACT:
SUBMITTER: Otto E
PROVIDER: S-EPMC385091 | biostudies-literature | 2002 Nov
REPOSITORIES: biostudies-literature
Otto Edgar E Hoefele Julia J Ruf Rainer R Mueller Adelheid M AM Hiller Karl S KS Wolf Matthias T F MT Schuermann Maria J MJ Becker Achim A Birkenhäger Ralf R Sudbrak Ralf R Hennies Hans C HC Nürnberg Peter P Hildebrandt Friedhelm F
American journal of human genetics 20020829 5
Nephronophthisis (NPHP) comprises a group of autosomal recessive cystic kidney diseases, which constitute the most frequent genetic cause for end-stage renal failure in children and young adults. The most prominent histologic feature of NPHP consists of development of renal fibrosis, which, in chronic renal failure of any origin, represents the pathogenic event correlated most strongly to loss of renal function. Four gene loci for NPHP have been mapped to chromosomes 2q13 (NPHP1), 9q22 (NPHP2), ...[more]