Associated Papers
Identification of Novel Risk Variants of Non-Syndromic Cleft Palate by Targeted Gene Panel Sequencing.
Dąbrowska J et al.
Journal of Clinical Medicine, 2023
36902838 (PubMed )
Supplement: jcm-12-02051-s001.zip › Supplementary_Tables_1-4.xlsx › ST4
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
A Cross-Sectional Cohort Study of the Effects of FGF23 Deficiency and Hyperphosphatemia on Dental Structures in Hyperphosphatemic Familial Tumoral Calcinosis.
Lee AE et al.
Jbmr Plus, 2021
Hyperphosphatemic tumoral calcinosis caused by FGF23 compound heterozygous mutations: what are the therapeutic options for a better control of phosphatemia?
Claramunt-Taberner D et al.
Pediatric Nephrology (berlin, Germany), 2018
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
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
Familial tumoral calcinosis and hyperostosis-hyperphosphataemia syndrome are different manifestations of the same disease: novel missense mutations in GALNT3.
Joseph L et al.
Skeletal Radiology, 2010
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
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
A novel recessive mutation in fibroblast growth factor-23 causes familial tumoral calcinosis.
Larsson T et al.
The Journal of Clinical Endocrinology and Metabolism, 2005
An FGF23 missense mutation causes familial tumoral calcinosis with hyperphosphatemia.
Benet-Pagès A et al.
Human Molecular Genetics, 2005
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