Associated Papers
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
A mouse with an N-Ethyl-N-nitrosourea (ENU) Induced Trp589Arg Galnt3 mutation represents a model for hyperphosphataemic familial tumoural calcinosis.
Esapa CT et al.
Plos One, 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
Tumoral calcinosis: new insights for the rheumatologist into a familial crystal deposition disease.
Sprecher E
Current Rheumatology Reports, 2007
A novel homozygous missense mutation in FGF23 causes Familial Tumoral Calcinosis associated with disseminated visceral calcification.
Chefetz I et al.
Human Genetics, 2005
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