Article
Clinical variability of familial tumoral calcinosis caused by novel GALNT3 mutations.
American journal of medical genetics. Part A - 1 Apr 2010
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
Abstract excerpt
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 calcinosis is characterized by the presence of ectopic calcifications around major joints, whereas...
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.