Associated Papers
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
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 )
Supplement: 12863_2014_98_MOESM1_ESM.xlsx › Ark1
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
Molecular pathology of the fibroblast growth factor family.
Krejci P et al.
Human Mutation, 2009
A novel recessive mutation of fibroblast growth factor-23 in tumoral calcinosis.
Masi L et al.
The Journal of Bone and Joint Surgery. American Volume, 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
Select a paper to view details