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  1. PKD1 gene: MedlinePlus Genetics 
    https://medlineplus.gov/genetics/gene/pkd1
    ... PKD1 Gene and Variant Databases NCBI Gene ClinVar References Al-Bhalal L, Akhtar M. Molecular basis of autosomal dominant polycystic kidney disease. Adv Anat Pathol. 2005 May;12(3):126- ...
  2. PKD2 gene: MedlinePlus Genetics 
    https://medlineplus.gov/genetics/gene/pkd2
    ... PKD2 Gene and Variant Databases NCBI Gene ClinVar References Al-Bhalal L, Akhtar M. Molecular basis of autosomal dominant polycystic kidney disease. Adv Anat Pathol. 2005 May;12(3):126- ...
  3. Polycystic Kidney Disease, Autosomal Dominant - GeneReviews® - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK1246
    ... Arg3277Cys Hypomorphic allele (See Genotype-Phenotype Correlations .) ... of nomenclature. Chapter Notes Author ...
  4. Cranioectodermal Dysplasia - GeneReviews® - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK154653
    ... 15 December 2022 (aa) Revision: added IFT140 -related autosomal dominant polycystic kidney disease to ... References Literature Cited Ackah RL, Yoeli D, Kueht M, ...
  5. Kidney Cysts 
    https://medlineplus.gov/kidneycysts.html
    Polycystic kidney disease (PKD) are kidney cysts that enlarge kidneys and make them work poorly, leading to kidney failure. Learn about PKD symptoms ... A cyst ...
  6. Polycystic kidney disease: MedlinePlus Genetics 
    https://medlineplus.gov/genetics/condition/polycystic-kidney-disease
    ... LIVER DISEASE; PKD2 Scientific Articles on PubMed ... C, Sandford R. Autosomal dominant polycystic kidney disease (ADPKD, MIM 173900, PKD1 and ...
  7. Autosomal Dominant Tubulointerstitial Kidney Disease – UMOD - GeneReviews® - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK1356
    ... UMOD have had proteinuria; however, this is uncharacteristic. Autosomal dominant polycystic kidney disease. If the urinary sediment is bland (i.e., ... in an autosomal dominant manner, one must exclude autosomal dominant polycystic kidney disease (ADPKD), in which a large number of cysts ...
  8. Autosomal Recessive Polycystic Kidney Disease – PKHD1 - GeneReviews® - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK1326
    ... in individuals with heterozygous PKHD1 pathogenic variants (see Autosomal Dominant Polycystic Kidney Disease ). Differential Diagnosis Autosomal recessive polycystic kidney disease (ARPKD) ...
  9. 17q12 Recurrent Deletion Syndrome - GeneReviews® - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK401562
    ... al [2019] ; Armstrong & Thomas [2019] ; Polycystic Kidney Disease, Autosomal Dominant ; Polycystic Kidney Disease, Autosomal Recessive ; and Nephronophthisis AD = autosomal dominant; ADPKD = ...
  10. Tuberous Sclerosis Complex - GeneReviews® - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK1220
    ... both TSC caused by deletion of TSC2 and autosomal dominant polycystic kidney disease (ADPKD) caused by deletion of PKD1 . In these ... phenotype of tuberous sclerosis complex (TSC) and severe autosomal dominant polycystic kidney disease is usually evident in utero or is diagnosed ...
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