Associated Papers
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
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 PHEX gene mutations in patients with X-linked hypophosphatemic rickets: an analysis of 2 cases].
Ran Q et al.
Zhongguo Dang Dai Er Ke Za Zhi = Chinese Journal of Contemporary Pediatrics, 2017
Three novel mutations in the PHEX gene in Chinese subjects with hypophosphatemic rickets extends genotypic variability.
Jap TS et al.
Calcified Tissue International, 2011
Three novel mutations of the PHEX gene in three Chinese families with X-linked dominant hypophosphatemic rickets.
Xia W et al.
Calcified Tissue International, 2007
Select a paper to view details