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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Dettagli Bibliografici
Pubblicato in:Nephrol Dial Transplant
Autori principali: 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.
Natura: Artigo
Lingua:Inglês
Pubblicazione: Oxford University Press 2014
Soggetti:
CLINICAL SCIENCE
Accesso online: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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