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Familial cystic renal disease
- ... 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 ...
- ... Nijenhuis T. Hepatocyte Nuclear Factor 1beta-Associated Kidney Disease: More than Renal Cysts and Diabetes. J Am Soc Nephrol. 2016 Feb; ...
- ... 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 ...
- ... gene IFT140 in skeletal ciliopathies with early progressive kidney Disease. Hum Mutat. 2013 May;34(5):714-24. ...
- ... 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 ...