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
Clinical and Genetic Characteristics of 153 Chinese Patients With X-Linked Hypophosphatemia.
Lin X et al.
Frontiers in Cell and Developmental Biology, 2021
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
Targeted resequencing of phosphorus metabolism‑related genes in 86 patients with hypophosphatemic rickets/osteomalacia.
Gu J et al.
International Journal of Molecular Medicine, 2018
Seven novel and six de novo PHEX gene mutations in patients with hypophosphatemic rickets.
Li SS et al.
International Journal of Molecular Medicine, 2016
Three novel PHEX gene mutations in four Chinese families with X-linked dominant hypophosphatemic rickets.
Kang QL et al.
Biochemical and Biophysical Research Communications, 2012
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