A novel PHEX mutation in a Korean patient with sporadic hypophosphatemic rickets.

Abstract excerpt

Mutations including nonsense mutations, missense mutations, splicing-site mutations, insertions, and deletions in phosphate regulating genes on the X-chromosome (PHEX) are known to be responsible for X-linked hypophosphatemic rickets. The PHEX gene encodes an endopeptidase that is involved in phosphate regulation. Herein we present a female patient with sporadic hypophosphatemic rickets harboring a novel deletion...

Topics

Share this publication in a Topic to start or enrich a Post.

• Share to Chromosomes, Human, X
• Share to Codon