“Novel PHEX Gene Mutation Causing X-Linked Hypophosphatemic Rickets in a Chinese Family and Pathogenic Effects in a Rat Model: A Study Report”

https://pubmed.ncbi.nlm.nih.gov/38116308

This study reports a novel PHEX gene mutation causing X-linked hypophosphatemic rickets in a Chinese family and its pathogenic effects on growth, serum biochemistry, and bone microstructure in a rat model.