Article
Severe vascular calcification and tumoral calcinosis in a family with hyperphosphatemia: a fibroblast growth factor 23 mutation identified by exome sequencing.
Nephrology, dialysis, transplantation : official publication of the European Dialysis and Transplant Association - European Renal Association - 1 Dec 2014
Shah Anuja, Miller Clinton J, Nast Cynthia C, Adams Mark D, Truitt Barbara, Tayek John A, Tong Lili, Mehtani Parag, Monteon Francisco, Sedor John R, Clinkenbeard Erica L, White Kenneth, Mehrotra Rajnish, LaPage Janine, Dickson Patricia, Adler Sharon G, Iyengar Sudha K
Abstract excerpt
BACKGROUND: Tumoral calcinosis is an autosomal recessive disorder characterized by ectopic calcification and hyperphosphatemia. METHODS: We describe a family with tumoral calcinosis requiring amputations. The predominant metabolic anomaly identified in three affected family members was hyperphosphatemia. Biochemical and phenotypic analysis of 13 kindred members, together with exome analysis of 6 members, was...
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