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Dent disease 1
- ... the CLCN5 gene have been found to cause Dent disease 1, a chronic kidney disorder that can cause kidney ... stones, and related health problems in people with Dent disease 1. Abnormal proximal tubule function ultimately leads to kidney ...
- ... 11. doi: 10.1177/154405910808701217. Erratum In: J Dent Res. 2009 Jan;88(1):95. ... of normal variation and disease-causing mutations in the human DSPP gene. Hum ...
- ... the OCRL gene have been found to cause Dent disease 2. This form of Dent disease is characterized by chronic kidney problems; some affected ... that does not impair vision. Some researchers consider Dent disease 2 to be a mild variant of Lowe ...
- ... Naxos syndrome secondary to desmoplakin-dominant mutations. J Dent Res. 2011 Jan;90(1):58-64. doi: 10.1177/0022034510383984. Epub 2010 ... desmoplakin mutations in cardiomyopathy patients reveal different molecular disease mechanisms. Clin Genet. 2013 Jul;84(1):20-30. doi: 10.1111/cge.12056. Epub ...
- ... report and review of the literature. Int J Dent Hyg. 2010 Feb;8(1):68-74. doi: 10.1111/j.1601-5037. ...