Associated Papers
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
Novel de novo nonsense mutation of the PHEX gene (p.Lys50Ter) in a Chinese patient with hypophosphatemic rickets.
Huang Y et al.
Gene, 2015
Mutational analysis of patients with FGF23-related hypophosphatemic rickets.
Kinoshita Y et al.
European Journal of Endocrinology, 2012
Mutational survey of the PHEX gene in patients with X-linked hypophosphatemic rickets.
Ichikawa S et al.
Bone, 2008
Select a paper to view details