Clinical Variability of Familial Tumoral Calcinosis Caused by Novel GALNT3 Mutations

The GALNT3 gene encodes GalNAc-T3, which prevents degradation of the phosphaturic hormone, fibroblast growth factor 23 (FGF23). Biallelic mutations in either GALNT3 or FGF23 result in hyperphosphatemic familial tumoral calcinosis or its variant, hyperostosis-hyperphosphatemia syndrome. Tumoral calci...

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Autors principals: Ichikawa, Shoji, Baujat, Geneviève, Seyahi, Aksel, Garoufali, Anastasia G., Imel, Erik A., Padgett, Leah R., Austin, Anthony M., Sorenson, Andrea H., Pejin, Zagorka, Topouchian, Vicken, Quartier, Pierre, Cormier-Daire, Valerie, Dechaux, Michele, Malandrinou, Fotini Ch., Singhellakis, Panagiotis N., Le Merrer, Martine, Econs, Michael J.
Format: Artigo
Idioma:Inglês
Publicat: 2010
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Article
Accés en línia:https://ncbi.nlm.nih.gov/pmc/articles/PMC3392654/
https://ncbi.nlm.nih.gov/pubmed/20358599
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/ajmg.a.33337
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