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Acta Orthopaedica Volume 80, 2009 - Issue 1
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Original

Newly discovered mutations in the GALNT3 gene causing autosomal recessive hyperostosis-hyperphosphatemia syndrome

Faysal Gok Department of Pediatric Nephrology and Radiology, Gulhane Military Medical School, Ankara, Turkey
,
Ilana Chefetz Center for Translational Genetics, Rappaport Institute for Research in the Medical Sciences, Israel Institute of Technology, Haifa, Israel
,
Margarita Indelman Laboratory of Molecular Dermatology, Department of Dermatology, Rambam Health Care Campus, Haifa, Israel
,
Murat Kocaoglu Radiology, Gulhane Military Medical School, Ankara, Turkey
&
Eli Sprecher Center for Translational Genetics, Rappaport Institute for Research in the Medical Sciences, Israel Institute of Technology, Haifa, Israel; Bruce Rappaport Faculty of Medicine, Haifa, IsraelCorrespondence[email protected]
Pages 131-134 | Accepted 05 Sep 2008, Published online: 08 Jul 2009

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Erhan Yumusak, Fatih Mehmet Mutlu & Faysal Gok. (2016) An Unusual Cause of Pseudopapillary Oedema: Hyperphosphatemic Hyperostosis Syndrome. Ophthalmic Genetics 37:2, pages 238-241.
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Judith Van Wynsberghe & Olivier M. Vanakker. (2023) Significance of Premature Vertebral Mineralization in Zebrafish Models in Mechanistic and Pharmaceutical Research on Hereditary Multisystem Diseases. Biomolecules 13:11, pages 1621.
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Neelam Hassan, Celia L. Gregson, Haotian Tang, Marc van der Kamp, Paul Leo, Aideen M. McInerney‐Leo, Jie Zheng, Maria Luisa Brandi, Jonathan C. Y. Tang, William Fraser, Michael D. Stone, Elin Grundberg, Matthew A. Brown, Emma L. Duncan & Jonathan H. Tobias. (2023) Rare and Common Variants in GALNT3 May Affect Bone Mass Independently of Phosphate Metabolism . Journal of Bone and Mineral Research 38:5, pages 678-691.
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Kentaro Kato, Lars Hansen & Henrik Clausen. (2021) Polypeptide N-acetylgalactosaminyltransferase-Associated Phenotypes in Mammals. Molecules 26:18, pages 5504.
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M. Chakhtoura, M.S. Ramnitz, N. Khoury, G. Nemer, N. Shabb, A. Abchee, A. Berberi, M. Hourani, M. Collins, S. Ichikawa & G. El Hajj Fuleihan. (2018) Hyperphosphatemic familial tumoral calcinosis secondary to fibroblast growth factor 23 (FGF23) mutation: a report of two affected families and review of the literature. Osteoporosis International 29:9, pages 1987-2009.
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Tao Zuo, Jinshuai Shan, Yang Liu, Rong Xie, Xiaochun Yu & Chen Wu. (2018) EFEMP2 Mediates GALNT14-Dependent Breast Cancer Cell Invasion. Translational Oncology 11:2, pages 346-352.
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Fernando Rivadeneira & André G. Uitterlinden. 2018. Genetics of Bone Biology and Skeletal Disease. Genetics of Bone Biology and Skeletal Disease 377 395 .
Silje Rafaelsen, Stefan Johansson, Helge R?der & Robert Bjerknes. (2014) Long-term clinical outcome and phenotypic variability in hyperphosphatemic familial tumoral calcinosis and hyperphosphatemic hyperostosis syndrome caused by a novel GALNT3mutation; case report and review of the literature. BMC Genetics 15:1.
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Richard M. Shore & Russell W. Chesney. (2012) Rickets: Part II. Pediatric Radiology 43:2, pages 152-172.
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Fernando Rivadeneira & Andr? G. Uitterlinden. 2013. Genetics of Bone Biology and Skeletal Disease. Genetics of Bone Biology and Skeletal Disease 243 256 .
Katrine T.-B.G. Schjoldager & Henrik Clausen. (2012) Site-specific protein O-glycosylation modulates proprotein processing — Deciphering specific functions of the large polypeptide GalNAc-transferase gene family. Biochimica et Biophysica Acta (BBA) - General Subjects 1820:12, pages 2079-2094.
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Alan Yancovitch, Dov Hershkovitz, Margareta Indelman, Peter Galloway, Margo Whiteford, Eli Sprecher & Esra Kılıç. (2011) Novel mutations in GALNT3 causing hyperphosphatemic familial tumoral calcinosis. Journal of Bone and Mineral Metabolism 29:5, pages 621-625.
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Richard Lee & Thomas J Weber. (2010) Disorders of phosphorus homeostasis. Current Opinion in Endocrinology, Diabetes & Obesity 17:6, pages 561-567.
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Shoji Ichikawa, Geneviève Baujat, Aksel Seyahi, Anastasia G. Garoufali, Erik A. Imel, Leah R. Padgett, Anthony M. Austin, Andrea H. Sorenson, Zagorka Pejin, Vicken Topouchian, Pierre Quartier, Valerie Cormier‐Daire, Michele Dechaux, Fotini Ch. Malandrinou, Panagiotis N. Singhellakis, Martine Le Merrer & Michael J. Econs. (2010) Clinical variability of familial tumoral calcinosis caused by novel GALNT3 mutations . American Journal of Medical Genetics Part A 152A:4, pages 896-903.
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Eli Sprecher. (2010) Familial Tumoral Calcinosis: From Characterization of a Rare Phenotype to the Pathogenesis of Ectopic Calcification. Journal of Investigative Dermatology 130:3, pages 652-660.
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