Associated Papers
Identification of six novel variants from nine Chinese families with hypophosphatemic rickets.
Cao Y et al.
Bmc Medical Genomics, 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
A novel de novo mosaic mutation in PHEX in a Korean patient with hypophosphatemic rickets.
Yang M et al.
Annals of Pediatric Endocrinology & Metabolism, 2018
Novel and de novo PHEX mutations in patients with hypophosphatemic rickets.
Durmaz E et al.
Bone, 2013
Genetic diagnosis of X-linked dominant Hypophosphatemic Rickets in a cohort study: tubular reabsorption of phosphate and 1,25(OH)2D serum levels are associated with PHEX mutation type.
Morey M et al.
Bmc Medical Genetics, 2011
PHEX analysis in 118 pedigrees reveals new genetic clues in hypophosphatemic rickets.
Gaucher C et al.
Human Genetics, 2009
A novel PHEX mutation in a Korean patient with sporadic hypophosphatemic rickets.
Kim J et al.
Annals of Clinical and Laboratory Science, 2009
PHEX gene mutations and genotype-phenotype analysis of Korean patients with hypophosphatemic rickets.
Song HR et al.
Journal of Korean Medical Science, 2007
Two novel PHEX mutations in Taiwanese patients with X-linked hypophosphatemic rickets.
Lo FS et al.
Nephron. Physiology, 2006
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