Associated Papers
High Occurrence of a Missense Variant (c.471C>A) in the FGF23 Gene Related to Hyperostosis-Hyperphosphatemia Syndrome With a Possible Founder Effect.
Sedghi M et al.
Human Mutation, 2025
The Successful Treatment of Deep Soft-tissue Calcifications with Topical Sodium Thiosulphate and Acetazolamide in a Boy with Hyperphosphatemic Familial Tumoral Calcinosis due to a Novel Mutation in FGF23
Döneray H et al.
Journal of Clinical Research in Pediatric Endocrinology, 2022
A novel FGF23 mutation in hyperphosphatemic familial tumoral calcinosis and its deleterious effect on protein O-glycosylation.
Zuo Q et al.
Frontiers in Endocrinology, 2022
Combined sequence and sequence-structure based methods for analyzing FGF23, CYP24A1 and VDR genes.
Nagamani S et al.
Meta Gene, 2016
Long-term clinical outcome and phenotypic variability in hyperphosphatemic familial tumoral calcinosis and hyperphosphatemic hyperostosis syndrome caused by a novel GALNT3 mutation; case report and review of the literature.
Rafaelsen S et al.
Bmc Genetics, 2014
25249269 (PubMed )
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Fibrous dysplasia and fibroblast growth factor-23 regulation.
Boyce AM et al.
Current Osteoporosis Reports, 2013
FGF23 and syndromes of abnormal renal phosphate handling.
Bergwitz C et al.
Advances in Experimental Medicine and Biology, 2012
Miscellaneous non-inflammatory musculoskeletal conditions. Hyperphosphatemic familial tumoral calcinosis (FGF23, GALNT3 and αKlotho).
Farrow EG et al.
Best Practice & Research. Clinical Rheumatology, 2011
Clinical variability of familial tumoral calcinosis caused by novel GALNT3 mutations.
Ichikawa S et al.
American Journal of Medical Genetics. Part A, 2010
Defective O-glycosylation due to a novel homozygous S129P mutation is associated with lack of fibroblast growth factor 23 secretion and tumoral calcinosis.
Bergwitz C et al.
The Journal of Clinical Endocrinology and Metabolism, 2009
Familial tumoral calcinosis and the role of O-glycosylation in the maintenance of phosphate homeostasis.
Chefetz I et al.
Biochimica Et Biophysica Acta, 2009
Molecular pathology of the fibroblast growth factor family.
Krejci P et al.
Human Mutation, 2009
Molecular genetic and biochemical analyses of FGF23 mutations in familial tumoral calcinosis.
Garringer HJ et al.
American Journal of Physiology. Endocrinology and Metabolism, 2008
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