Mutational analysis of PHEX, FGF23 and CLCN5 in patients with hypophosphataemic rickets.


Guven A., Al-Rijjal R. A. , BinEssa H. A. , Dogan D., Kor Y., Zou M., ...More

Clinical endocrinology, vol.87, no.1, pp.103-112, 2017 (Journal Indexed in SCI Expanded) identifier identifier identifier

  • Publication Type: Article / Article
  • Volume: 87 Issue: 1
  • Publication Date: 2017
  • Doi Number: 10.1111/cen.13347
  • Title of Journal : Clinical endocrinology
  • Page Numbers: pp.103-112
  • Keywords: CLCN5, FGF23, hypophosphataemia, PHEX, rickets, MOLECULAR-WEIGHT PROTEINURIA, DENT DISEASE, GENE, PHOSPHATE, DMP1, SLC34A3, NEPHROCALCINOSIS, HYPERCALCIURIA, CHILDREN

Abstract

ContextHypophosphataemic rickets (HR) is a group of rare hereditary renal phosphate wasting disorders caused by mutations in PHEX, FGF23, DMP1, ENPP1, CLCN5 or SLC34A3.