Associated Papers
Clinical, Radiographic, and Molecular Analysis of Patients with X-Linked Hypophosphatemic Rickets: Looking for Phenotype-Genotype Correlation.
Olivas-Valdez MA et al.
Diagnostics (basel, Switzerland), 2025
Characterization of Novel PHEX Variants in X-linked Hypophosphatemic Rickets and Genotype-PHEX Activity Correlation.
Wu H et al.
The Journal of Clinical Endocrinology and Metabolism, 2024
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
34806794 (PubMed )
Supplement: HUMU-43-143-s001.xlsx › Table_S1-_870_PHEX_variants
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