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-Reference-Cited by-同舟云学术

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

Published:2014-09-24 Issue:1 Volume:15 Page:
ISSN:1471-2156
Container-title:BMC Genetics
language:en
Short-container-title:BMC Genet

Author:

Rafaelsen Silje,Johansson Stefan,Ræder Helge,Bjerknes Robert

Publisher

Springer Science and Business Media LLC

Subject

Genetics (clinical),Genetics

Link

http://link.springer.com/article/10.1186/s12863-014-0098-3/fulltext.html

Reference66 articles.

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2. Chefetz I, Sprecher E: Familial tumoral calcinosis and the role of O-glycosylation in the maintenance of phosphate homeostasis. Biochim Biophys Acta. 2009, 1792: 847-852. 10.1016/j.bbadis.2008.10.008.

3. Joseph L, Hing SN, Presneau N, O’Donnell P, Diss T, Idowu BD, Joseph S, Flanagan AM, Delaney D: Familial tumoral calcinosis and hyperostosis-hyperphosphataemia syndrome are different manifestations of the same disease: novel missense mutations in GALNT3. Skeletal Radiol. 2010, 39: 63-68. 10.1007/s00256-009-0808-5.

4. Frishberg Y, Topaz O, Bergman R, Behar D, Fisher D, Gordon D, Richard G, Sprecher E: Identification of a recurrent mutation in GALNT3 demonstrates that hyperostosis-hyperphosphatemia syndrome and familial tumoral calcinosis are allelic disorders. J Mol Med (Berl). 2005, 83: 33-38. 10.1007/s00109-004-0610-8.

5. Farrow EG, Imel EA, White KE: Miscellaneous non-inflammatory musculoskeletal conditions. Hyperphosphatemic familial tumoral calcinosis (FGF23, GALNT3 and alphaKlotho). Best Pract Res Clin Rheumatol. 2011, 25: 735-747. 10.1016/j.berh.2011.10.020.

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