Associated Papers
Clinical, Radiographic, and Molecular Analysis of Patients with X-Linked Hypophosphatemic Rickets: Looking for Phenotype-Genotype Correlation.
Olivas-Valdez MA et al.
Diagnostics (basel, Switzerland), 2025
Three exonic variants in the PHEX gene cause aberrant splicing in a minigene assay.
Pan F et al.
Frontiers in Genetics, 2024
A Unique Mechanism of a Novel Synonymous PHEX Variant Causing X-Linked Hypophosphatemia.
Alhamoudi KM et al.
The Journal of Clinical Endocrinology and Metabolism, 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
Validation of a next-generation sequencing (NGS) panel to improve the diagnosis of X-linked hypophosphataemia (XLH) and other genetic disorders of renal phosphate wasting.
Thiele S et al.
European Journal of Endocrinology, 2020
33107440 (PubMed )
Supplement: supplementary_table_4.xlsx › Tabelle1__3_
PHEX analysis in 118 pedigrees reveals new genetic clues in hypophosphatemic rickets.
Gaucher C et al.
Human Genetics, 2009
Genome-wide analysis to predict protein sequence variations that change phosphorylation sites or their corresponding kinases.
Ryu GM et al.
Nucleic Acids Research, 2009
19139070 (PubMed )
Supplement: gkn1008_nar-01723-s-2008-File009.xls › TypeIII
Two novel PHEX mutations in Taiwanese patients with X-linked hypophosphatemic rickets.
Lo FS et al.
Nephron. Physiology, 2006
Identification of fifteen novel PHEX gene mutations in Finnish patients with hypophosphatemic rickets.
Tyynismaa H et al.
Human Mutation, 2000
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