A Novel claudin-16 Mutation, Severe Bone Disease, and Nephrocalcinosis

Lancet. 2014 Jan 4;383(9911):98. doi: 10.1016/S0140-6736(13)62673-2.

Publication types

  • Case Reports
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Adult
  • Bone Demineralization, Pathologic / genetics*
  • Claudins / genetics*
  • Humans
  • Hypercalciuria / genetics*
  • Hypocalcemia / genetics
  • Hypoparathyroidism / congenital
  • Hypoparathyroidism / genetics
  • Kidney Failure, Chronic / genetics
  • Male
  • Mutation*
  • Nephrocalcinosis / genetics*
  • Renal Tubular Transport, Inborn Errors / genetics*

Substances

  • Claudins
  • claudin 16

Supplementary concepts

  • Hypercalciuric Hypocalcemia, Familial
  • Hypomagnesemia primary