Associated Papers
Autosomal dominant hypophosphatemic rickets: a case report of two sisters with a novel FGF-23 mutation.
Mumbach G et al.
Osteoporosis International : a Journal Established as Result of Cooperation Between the European Foundation for Osteoporosis and the National Osteoporosis Foundation of the Usa, 2025
A Rare Cause of Sacral Insufficiency Fracture in Adolescence: Autosomal Dominant Hypophosphatemic Rickets due to Fgf23 de novo P.Arg176trp Variant.
Aytaç Kaplan EH et al.
Journal of Clinical Research in Pediatric Endocrinology, 2025
A case of autosomal dominant hypophosphatemic rickets.
Takishima S et al.
Clinical Pediatric Endocrinology : Case Reports and Clinical Investigations : Official Journal of the Japanese Society for Pediatric Endocrinology, 2025
Bone characteristics of autosomal dominant hypophosphatemic rickets patients.
Liu C et al.
Bone, 2023
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
MicroSEC filters sequence errors for formalin-fixed and paraffin-embedded samples.
Ikegami M et al.
Communications Biology, 2021
Autosomal Dominant Hypophosphatemic Rickets: A Case Report and Review of the Literature.
Mameli C et al.
International Journal of Environmental Research and Public Health, 2021
Iron deficiency plays essential roles in the trigger, treatment, and prognosis of autosomal dominant hypophosphatemic rickets.
Liu C et al.
Osteoporosis International : a Journal Established as Result of Cooperation Between the European Foundation for Osteoporosis and the National Osteoporosis Foundation of the Usa, 2021
Hypophosphatemic Rickets with R179W Mutation in FGFR23 Gene - A Rare But Treatable Cause of Refractory Rickets.
Sandal S et al.
Indian Journal of Pediatrics, 2021
Earlier Onset in Autosomal Dominant Hypophosphatemic Rickets of R179 than R176 Mutations in Fibroblast Growth Factor 23: Report of 20 Chinese Cases and Review of the Literature.
Liu C et al.
Calcified Tissue International, 2019
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
Mutational analysis of PHEX, FGF23 and CLCN5 in patients with hypophosphataemic rickets.
Guven A et al.
Clinical Endocrinology, 2017
Mutational analysis of patients with FGF23-related hypophosphatemic rickets.
Kinoshita Y et al.
European Journal of Endocrinology, 2012
Iron modifies plasma FGF23 differently in autosomal dominant hypophosphatemic rickets and healthy humans.
Imel EA et al.
The Journal of Clinical Endocrinology and Metabolism, 2011
Hereditary disorders of renal phosphate wasting.
Alizadeh Naderi AS et al.
Nature Reviews. Nephrology, 2010
An autosomal dominant hypophosphatemic rickets phenotype in a Tunisian family caused by a new FGF23 missense mutation.
Gribaa M et al.
Journal of Bone and Mineral Metabolism, 2010