Severe vascular calcification and tumoral calcinosis in a family with hyperphosphatemia: a fibroblast growth factor 23 mutation identified by exome sequencing

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 hyperphosphat...

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Bibliografiske detaljer
Udgivet i:Nephrol Dial Transplant
Main Authors: 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.
Format: Artigo
Sprog:Inglês
Udgivet: Oxford University Press 2014
Fag:
CLINICAL SCIENCE
Online adgang:https://ncbi.nlm.nih.gov/pmc/articles/PMC4240183/
https://ncbi.nlm.nih.gov/pubmed/25378588
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1093/ndt/gfu324
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