TY - JOUR AU - Rafaelsen, Silje AU - Johansson, Stefan AU - Ræder, Helge AU - Bjerknes, Robert PY - 2014 DA - 2014/09/24 TI - 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 JO - BMC Genetics SP - 98 VL - 15 IS - 1 AB - Hyperphosphatemic Familial Tumoral Calcinosis (HFTC) and Hyperphosphatemic Hyperostosis Syndrome (HHS) are associated with autosomal recessive mutations in three different genes, FGF23, GALNT3 and KL, leading to reduced levels of fibroblast growth factor 23 (FGF23) and subsequent clinical effects. SN - 1471-2156 UR - https://doi.org/10.1186/s12863-014-0098-3 DO - 10.1186/s12863-014-0098-3 ID - Rafaelsen2014 ER -