Associated Papers
A case and review of fibroblast growth factor-23-mediated hypophosphatemic osteomalacia in the absence of pathogenic PHEX variants.
Park YA et al.
Jbmr Plus, 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
34806794 (PubMed )
Supplement: HUMU-43-143-s001.xlsx › Table_S1-_870_PHEX_variants
Rare PHEX variant with insidious presentation leads to a delayed diagnosis of X-linked hypophosphatemia.
Constantacos C et al.
Bmj Case Reports, 2021
Identification of a novel variant in the PHEX gene using targeted gene panel sequencing in a 24-month-old boy with hypophosphatemic rickets.
Jo HY et al.
Annals of Pediatric Endocrinology & Metabolism, 2020
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