ba0006p113 | (1) | ICCBH2017
Ribault Virginie
, Campeau Philippe M.
, Laberge-Malo Marie
, Olivier Patricia
, Nyalendo Carine
, Alos Nathalie
: Hyperphosphatemic tumoral calcinosis (HTC) is a rare autosomal recessive metabolic disorder characterized by ectopic calcifications due to progressive deposition of basic calcium phosphate crystals in soft tissues. The biochemical hallmark of HTC is hyperphosphatemia caused by increased renal absorption of phosphate due to loss-of-function mutations in three genes: in the fibroblast growth factor-23 gene (FGF23) coding for a potent phosphaturic protein, in GALNT3, g...