Associated Papers
A Mosaic PHEX Variant in Hypophosphatemic Rickets: Distinguishing Postzygotic Mutation from Sex Chromosome Aneuploidy.
Lim WT et al.
Calcified Tissue International, 2025
Two De Novo Mosaic Variants Within the Same Site of PHEX Gene in a Girl with X-Linked Hypophosphatemic Rickets.
Lin Y et al.
Calcified Tissue International, 2022
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
Familial hypophosphatemic rickets caused by a PHEX gene mutation accompanied by a NPR2 missense mutation.
Zhao Y et al.
Journal of Pediatric Endocrinology & Metabolism : Jpem, 2020
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