Associated Papers
X-linked hypophosphatemic rickets: Description of seven new variants in patients followed up in reference hospitals in Rio de Janeiro.
Sant' Ana I et al.
Molecular Genetics & Genomic Medicine, 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
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
Three novel mutations in the PHEX gene in Chinese subjects with hypophosphatemic rickets extends genotypic variability.
Jap TS et al.
Calcified Tissue International, 2011
Select a paper to view details