Associated Papers
Burosumab in infants with X-linked hypophosphatemic rickets: a case series.
Regev R et al.
Orphanet Journal of Rare Diseases, 2026
Clinical and Molecular Genetic Characteristics of Patients with Hereditary Hypophosphatemia.
Eltan M et al.
The Journal of Clinical Endocrinology and Metabolism, 2025
A Mosaic PHEX Variant in Hypophosphatemic Rickets: Distinguishing Postzygotic Mutation from Sex Chromosome Aneuploidy.
Lim WT et al.
Calcified Tissue International, 2025
Characterization of Novel PHEX Variants in X-linked Hypophosphatemic Rickets and Genotype-PHEX Activity Correlation.
Wu H et al.
The Journal of Clinical Endocrinology and Metabolism, 2024
X-Linked hypophosphatemia. Data from a Spanish adult population cohort.
López-Romero LC et al.
Journal of Nephrology, 2024
Utility of next-generation sequencing in genetic testing and counseling of disorders involving the musculoskeletal system-trends observed from a single genetic unit.
Iyer GR et al.
Journal of Orthopaedic Surgery and Research, 2022
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
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
Clinical and genetic characteristics of 29 Chinese patients with X-linked hypophosphatemia.
Xu T et al.
Frontiers in Endocrinology, 2022
Phenotypic characterization of X-linked hypophosphatemia in pediatric Spanish population.
Rodríguez-Rubio E et al.
Orphanet Journal of Rare Diseases, 2021
Clinical and Genetic Characteristics of 153 Chinese Patients With X-Linked Hypophosphatemia.
Lin X et al.
Frontiers in Cell and Developmental Biology, 2021
Novel variants and uncommon cases among southern Chinese children with X-linked hypophosphatemia.
Lin Y et al.
Journal of Endocrinological Investigation, 2020
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
PHEX Gene Mutation in a Patient with X-Linked Hypophosphatemic Rickets in a Developing Country.
Forero-Delgadillo JM et al.
The Application of Clinical Genetics, 2020
Clinical and genetic analysis in a large Chinese cohort of patients with X-linked hypophosphatemia.
Zhang C et al.
Bone, 2019
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
[Analysis of PHEX gene mutations in three pedigrees affected with hypophosphatemic rickets].
Zhang S et al.
Zhonghua Yi Xue Yi Chuan Xue Za Zhi = Zhonghua Yixue Yichuanxue Zazhi = Chinese Journal of Medical Genetics, 2018
Genetics of Refractory Rickets: Identification of Novel PHEX Mutations in Indian Patients and a Literature Update.
Marik B et al.
Journal of Pediatric Genetics, 2018
Clinical and genetic characteristics of 15 families with hereditary hypophosphatemia: Novel Mutations in PHEX and SLC34A3.
Acar S et al.
Plos One, 2018
Seven novel and six de novo PHEX gene mutations in patients with hypophosphatemic rickets.
Li SS et al.
International Journal of Molecular Medicine, 2016
PHEX 3'-UTR c.*231A>G near the polyadenylation signal is a relatively common, mild, American mutation that masquerades as sporadic or X-linked recessive hypophosphatemic rickets.
Mumm S et al.
Journal of Bone and Mineral Research : the Official Journal of the American Society for Bone and Mineral Research, 2015
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
Three-year successful cinacalcet treatment of secondary hyperparathyroidism in a patient with x-linked dominant hypophosphatemic rickets: a case report.
Grove-Laugesen D et al.
Case Reports in Endocrinology, 2014
Novel and de novo PHEX mutations in patients with hypophosphatemic rickets.
Durmaz E et al.
Bone, 2013
Three novel PHEX gene mutations in four Chinese families with X-linked dominant hypophosphatemic rickets.
Kang QL et al.
Biochemical and Biophysical Research Communications, 2012
Mutational analysis of PHEX, FGF23, DMP1, SLC34A3 and CLCN5 in patients with hypophosphatemic rickets.
Beck-Nielsen SS et al.
Journal of Human Genetics, 2012
Paravertebral ligament ossification in vitamin D-resistant rickets: incidence, clinical significance, and genetic evaluation.
Lee SH et al.
Spine, 2012
Growth in PHEX-associated X-linked hypophosphatemic rickets: the importance of early treatment.
Quinlan C et al.
Pediatric Nephrology (berlin, Germany), 2012
Mutation prediction by PolyPhen or functional assay, a detailed comparison of CYP27B1 missense mutations.
Zou M et al.
Endocrine, 2011
Mutational analysis of PHEX, FGF23 and DMP1 in a cohort of patients with hypophosphatemic rickets.
Ruppe MD et al.
Clinical Endocrinology, 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
Gain-of-glycosylation mutations.
Vogt G et al.
Current Opinion in Genetics & Development, 2007
Two novel PHEX mutations in Taiwanese patients with X-linked hypophosphatemic rickets.
Lo FS et al.
Nephron. Physiology, 2006
A clinical and molecular genetic study of hypophosphatemic rickets in children.
Cho HY et al.
Pediatric Research, 2005
Co-existence of X-linked hypophosphatemic rickets (XLH) and primary hyperparathyroidism: case report and review of the literature.
Tournis ST et al.
Journal of Musculoskeletal & Neuronal Interactions, 2005
Mutational analysis and genotype-phenotype correlation of the PHEX gene in X-linked hypophosphatemic rickets.
Holm IA et al.
The Journal of Clinical Endocrinology and Metabolism, 2001
Three novel PHEX gene mutations in Japanese patients with X-linked hypophosphatemic rickets.
Sato K et al.
Pediatric Research, 2000
X-linked hypophosphatemic rickets--a report of 2 cases and review of literature.
Yong SM et al.
The Medical Journal of Malaysia, 2000
PHEXdb, a locus-specific database for mutations causing X-linked hypophosphatemia.
Sabbagh Y et al.
Human Mutation, 2000
X-linked hypophosphatemia in Polish patients. 1. Mutations in the PHEX gene.
Popowska E et al.
Journal of Applied Genetics, 2000
Non-random distribution of mutations in the PHEX gene, and under-detected missense mutations at non-conserved residues.
Filisetti D et al.
European Journal of Human Genetics : Ejhg, 1999
Mutational analysis of PHEX gene in X-linked hypophosphatemia.
Dixon PH et al.
The Journal of Clinical Endocrinology and Metabolism, 1998
Genomic organization of the human PEX gene mutated in X-linked dominant hypophosphatemic rickets.
Francis F et al.
Genome Research, 1997