Associated Papers
Uncovering genetic causes of hypophosphatemia.
Puente-Ruiz N et al.
Journal of Internal Medicine, 2023
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
Phenotypic characterization of X-linked hypophosphatemia in pediatric Spanish population.
Rodríguez-Rubio E et al.
Orphanet Journal of Rare Diseases, 2021
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