Associated Papers
A Mosaic PHEX Variant in Hypophosphatemic Rickets: Distinguishing Postzygotic Mutation from Sex Chromosome Aneuploidy.
Lim WT et al.
Calcified Tissue International, 2025
Two De Novo Mosaic Variants Within the Same Site of PHEX Gene in a Girl with X-Linked Hypophosphatemic Rickets.
Lin Y et al.
Calcified Tissue International, 2022
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
Novel variants and uncommon cases among southern Chinese children with X-linked hypophosphatemia.
Lin Y et al.
Journal of Endocrinological Investigation, 2020
'Isolated' germline mosaicism in the phenotypically normal father of a girl with X-linked hypophosphatemic rickets.
Lin Y et al.
European Journal of Endocrinology, 2020
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