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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Detalhes bibliográficos
Publicado no: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.
Formato: Artigo
Idioma:Inglês
Publicado em: Oxford University Press 2014
Assuntos:
CLINICAL SCIENCE
Acesso em linha: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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