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Dent disease 2
- ... the OCRL gene have been found to cause Dent disease 2. This form of Dent disease is characterized by ... that does not impair vision. Some researchers consider Dent disease 2 to be a mild variant of Lowe syndrome, ...
- ... channel, CLC-5, reveals a pathophysiological basis for Dent's disease. Hum Mol Genet. 1999 Feb;8(2):247-57. doi: 10.1093/hmg/8.2. ... FV, Teulon J. ClC-5 mutations associated with Dent's disease: a major role of the dimer interface. Pflugers Arch. 2012 Feb;463(2):247-56. doi: 10.1007/s00424-011-1052- ...
- ... 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 ...
- ... Tests of TINF2 PubMed ... Nalcaci R, Kocak M. Dyskeratosis congenita: clinical report and review of the literature. Int J Dent Hyg. 2010 Feb;8(1):68-74. doi: ...