Associated Papers
A GALNT3 mutation causing Hyperphosphatemic familial Tumoral calcinosis.
Wu A et al.
Molecular Genetics and Metabolism Reports, 2024
Rare and Common Variants in GALNT3 May Affect Bone Mass Independently of Phosphate Metabolism.
Hassan N et al.
Journal of Bone and Mineral Research : the Official Journal of the American Society for Bone and Mineral Research, 2023
Hyperphosphatemic familial tumoral calcinosis caused by a novel variant in the GALNT3 gene.
Mahjoubi F et al.
Journal of Endocrinological Investigation, 2020
Identification of two novel mutations in the GALNT3 gene in a Chinese family with hyperphosphatemic familial tumoral calcinosis.
Sun L et al.
Bone Research, 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
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
Novel mutations in GALNT3 causing hyperphosphatemic familial tumoral calcinosis.
Yancovitch A et al.
Journal of Bone and Mineral Metabolism, 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 the role of O-glycosylation in the maintenance of phosphate homeostasis.
Chefetz I et al.
Biochimica Et Biophysica Acta, 2009
A case of familial tumoral calcinosis/hyperostosis-hyperphosphatemia syndrome due to a compound heterozygous mutation in GALNT3 demonstrating new phenotypic features.
Dumitrescu CE 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, 2009
Newly discovered mutations in the GALNT3 gene causing autosomal recessive hyperostosis-hyperphosphatemia syndrome.
Gok F et al.
Acta Orthopaedica, 2009
Two novel GALNT3 mutations in familial tumoral calcinosis.
Garringer HJ et al.
American Journal of Medical Genetics. Part A, 2007
Hyperphosphatemic familial tumoral calcinosis caused by a mutation in GALNT3 in a European kindred.
Specktor P et al.
Journal of Human Genetics, 2006