Associated Papers
A Novel PHEX Mutation in X-Linked Hypophosphataemic Rickets With Reduced Expression of NaPi-IIa and NaPi-IIc in the Proximal Tubules: A Case Report.
Muto M et al.
Nephrology (carlton, Vic.), 2025
Novel PHEX gene locus-specific database: Comprehensive characterization of vast number of variants associated with X-linked hypophosphatemia (XLH).
Sarafrazi S et al.
Human Mutation, 2022
Functional Characterization of PHEX Gene Variants in Children With X-Linked Hypophosphatemic Rickets Shows No Evidence of Genotype-Phenotype Correlation.
Zheng B et al.
Journal of Bone and Mineral Research : the Official Journal of the American Society for Bone and Mineral Research, 2020
A novel c.2179T>C mutation blocked the intracellular transport of PHEX protein and caused X-linked hypophosphatemic rickets in a Chinese family.
Li B et al.
Molecular Genetics & Genomic Medicine, 2020
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