Associated Papers
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
Molecular Diagnoses of X-Linked and Other Genetic Hypophosphatemias: Results From a Sponsored Genetic Testing Program.
Rush ET et al.
Journal of Bone and Mineral Research : the Official Journal of the American Society for Bone and Mineral Research, 2022
34633109 (PubMed )
Supplement: JBMR-37-202-s001.xlsx › Supplemental_Table_1
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
Clinical and Genetic Characteristics of 153 Chinese Patients With X-Linked Hypophosphatemia.
Lin X et al.
Frontiers in Cell and Developmental Biology, 2021
A Novel PHEX Gene Mutation in a Patient with Sporadic Hypophosphatemic Rickets.
Kang YE et al.
Endocrinology and Metabolism (seoul, Korea), 2014
Two novel PHEX mutations in Taiwanese patients with X-linked hypophosphatemic rickets.
Lo FS et al.
Nephron. Physiology, 2006
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