Associated Papers
A novel phex gene variant causes non-syndromic tooth agenesis.
Pan Y et al.
Bmc Oral Health, 2025
Sporadic hypophosphatemic osteomalacia combined with psoriasis: A rare case report and a brief review of the literature.
Li Y et al.
International Journal of Rheumatic Diseases, 2023
The Variant p.Ala84Pro Is Causative of X-Linked Hypophosphatemic Rickets: Possible Relationship with Burosumab Swinging Response in Adults.
Zagari MC et al.
Genes, 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
Functional Characterization of PHEX Gene Variants in Children With X-Linked Hypophosphatemic Rickets Shows No Evidence of Genotype-Phenotype Correlation.
Zheng B et al.
Journal of Bone and Mineral Research : the Official Journal of the American Society for Bone and Mineral Research, 2020
A novel c.2179T>C mutation blocked the intracellular transport of PHEX protein and caused X-linked hypophosphatemic rickets in a Chinese family.
Li B et al.
Molecular Genetics & Genomic Medicine, 2020
Identification of a novel loss-of-function PHEX mutation, Ala720Ser, in a sporadic case of adult-onset hypophosphatemic osteomalacia.
Goljanek-Whysall K et al.
Bone, 2018
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