Clinical Utility Gene Card For: Familial Hypomagnesemia With Hypercalciuria and Nephrocalcinosis with/without Severe Ocular Involvement

Eur J Hum Genet. 2015 Jun;23(6). doi: 10.1038/ejhg.2014.176. Epub 2014 Sep 3.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Claudins / genetics*
  • Eye Diseases, Hereditary / diagnosis
  • Eye Diseases, Hereditary / genetics*
  • Female
  • Humans
  • Male
  • Renal Tubular Transport, Inborn Errors / diagnosis
  • Renal Tubular Transport, Inborn Errors / genetics*

Substances

  • CLDN19 protein, human
  • Claudins
  • claudin 16

Supplementary concepts

  • Hypomagnesemia 5, Renal, with Ocular Involvement