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Results 1 - 5 of 5 for Familial cystic renal disease
  1. ... of the UMOD gene are responsible for medullary cystic kidney disease 2 and familial juvenile hyperuricaemic nephropathy. J Med Genet. 2002 Dec; ... of mutation in uromodulin disorders: autosomal dominant medullary cystic ... hyperuricemic nephropathy, and autosomal dominant glomerulocystic kidney ...
  2. ... Nijenhuis T. Hepatocyte Nuclear Factor 1beta-Associated Kidney Disease: More than Renal Cysts and Diabetes. J Am Soc Nephrol. 2016 Feb; ...
  3. ... group of vascular conditions called COL4A1-related disorders. Familial porencephaly is characterized by early stroke and brain cysts. Most of the identified COL4A1 gene mutations that ...
  4. ... gene IFT140 in skeletal ciliopathies with early progressive kidney Disease. Hum Mutat. 2013 May;34(5):714-24. ...
  5. ... the formation of tumors and fluid-filled sacs (cysts) in many different parts of the body. VHL ... blood vessels, can lead to the development of cysts and tumors in people with von Hippel-Lindau ...