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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. Nephronophthisis: MedlinePlus Genetics 
    https://medlineplus.gov/genetics/condition/nephronophthisis
    ... symptoms. Learn more about the genes associated with Nephronophthisis NPHP1 WDR19 Additional Information from NCBI Gene: ANKS6 ...
  3. NPHP1 gene: MedlinePlus Genetics 
    https://medlineplus.gov/genetics/gene/nphp1
    ... cilia function. Health Conditions Related to Genetic Changes Nephronophthisis At least 23 mutations in the NPHP1 gene ... been found to cause a kidney disorder called nephronophthisis type 1. Type 1 is the most common ...
  4. WDR19 gene: MedlinePlus Genetics 
    https://medlineplus.gov/genetics/gene/wdr19
    ... Asphyxiating thoracic dystrophy More About This Health Condition Nephronophthisis MedlinePlus Genetics provides information about Nephronophthisis More About ...
  5. 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 ...
  6. 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 ...
  7. Senior-Løken syndrome: MedlinePlus Genetics 
    https://medlineplus.gov/genetics/condition/senior-loken-syndrome
    ... of two specific features: a kidney condition called nephronophthisis and an eye condition known as Leber congenital amaurosis . Nephronophthisis causes fluid-filled cysts to develop in the ...
  8. 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, ...
  9. Genetic Conditions: N 
    https://medlineplus.gov/genetics/condition-n
    ... Nephrolithiasis, see Kidney stones Nephroma, see Wilms tumor Nephronophthisis Nephropathy, Wilms tumor, and genital anomalies, see Denys- ... Chordoma NPD, see Niemann-Pick disease NPH, see Nephronophthisis NPHP, see Nephronophthisis NS, see Noonan syndrome NS, ...
  10. Resources for Genetics Professionals — Genetic Disorders Associated with Founder Variants Common in the Cree and/or ... 
    https://www.ncbi.nlm.nih.gov/books/NBK541231
    ... Saskatchewan) NM_017613 ​.3 Evrony et al [2017] Nephronophthisis AR GLIS2 c.775+1G>T -- 100% Unknown ... Hildebrandt F, Treier M. Loss of GLIS2 causes nephronophthisis in humans and mice by increased apoptosis and ...
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