Searchable abstracts of presentations at key conferences on calcified tissues

ba0003cc2 | (1) | ECTS2014

Hyperphosphatemic familial tumoral calcinosis and hyperphosphatemic hyperostosis syndrome caused by a novel GALNT3 mutation; Long-term clinical outcome and phenotypic variability.

Rafaelsen Silje , Johansson Stefan , Raeder Helge , Bjerknes Robert

Background: Hyperphosphatemic Familial Tumoral Calcinosis (HFTC) and Hyperphosphatemic Hyperostosis Syndrome (HHS) are two phenotypes of a disease associated with autosomal recessive mutations in FGF23, GALNT3 and KL, leading to reduced levels and clinical effects of fibroblast growth factor 23 (FGF23). We describe a consanguineous family with two affected individuals with HFTC and HHS caused by a novel homozygous mutation in GALNT3. We also...