Searchable abstracts of presentations at key conferences on calcified tissues

ba0002p57 | (1) | ICCBH2013

Heterozygous mutation in GALNT3 in a case of hyperphosphataemic familial tumoral calcinosis

Knight Katie , Cheung Moira , Allgrove Jeremy

Background: Hyperphosphataemic familial tumoral calcinosis (HFTC) is a rare autosomal recessive condition in which increased renal phosphate reabsorption is associated with elevated serum phosphate, inappropriately normal or raised PTH and extraosseous calcification. It is caused by mutations in genes related to phosphate metabolism: fibroblast growth factor 23 (FGF23), UDP-N-acetyl-D-galactosamine:polypeptide N-acetylgalactos...