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
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
A novel de novo mutation within PHEX gene in a young girl with hypophosphatemic rickets and review of literature.
Cheon CK et al.
Annals of Pediatric Endocrinology & Metabolism, 2014
Novel and de novo PHEX mutations in patients with hypophosphatemic rickets.
Durmaz E et al.
Bone, 2013
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
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