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  1. Nephronophthisis - GeneReviews® - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK368475
    ... Search term GeneReviews Advanced Search Help < Prev Next > Nephronophthisis Synonym: NPH Marijn Stokman , MD, Marc Lilien , MD, ... of treatment and surveillance. Clinical Description of the Nephronophthisis Phenotype Nephronophthisis is characterized by a reduced concentrating ...
  2. xmlghr-summaries.xml 
    https://medlineplus.gov/download/ghr-summaries.xml
    ... in the body. A kidney disorder known as nephronophthisis occurs in many people with this condition, and ... eye), kidney disease (including polycystic kidney disease and nephronophthisis), liver disease, skeletal abnormalities (such as the presence ...
  3. Autosomal Dominant Tubulointerstitial Kidney Disease, REN-Related - GeneReviews® - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK53700
    ... Zivná et al 2009 ] Note: (1) The term "nephronophthisis/medullary cystic kidney disease (NPH/MCKD) complex" was ... hereditary chronic tubulointerstitial disease [ Hildebrandt et al 1992 ]. Nephronophthisis is now used to refer to a group ...
  4. Polycystic Kidney Disease, Autosomal Recessive - GeneReviews® - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK1326
    ... include a number of disorders already mentioned: juvenile nephronophthisis and multisystem disorders such as Meckel-Gruber syndrome, ... E, Mele C, Remuzzi G. GeneReviews®. 1993 Review Nephronophthisis [GeneReviews ® . 1993] Review Nephronophthisis Stokman M, Lilien M, ...
  5. GeneReviews® - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK1116
    ... May 31, 2003; Last Update: November 13, 2014. Nephronophthisis Marijn Stokman, Marc Lilien, and Nine Knoers. Initial ... 2009; 7(3):80-129. Review Medical Error Prevention [StatPearls. 2020] Review Medical Error Prevention Rodziewicz TL, ...