Normophosphatemic Familial Tumoral Calcinosis Is Caused by Deleterious Mutations in SAMD9, Encoding a TNF-α Responsive Protein

Normophosphatemic familial tumoral calcinosis (NFTC) is an autosomal recessive disorder characterized by calcium deposition in skin and mucosae and associated with unremitting pain and life-threatening skin infections. A homozygous missense mutation (p.K1495E), resulting in SAMD9 protein degradation...

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Main Authors: Chefetz, Ilana, Ben Amitai, Danny, Browning, Sarah, Skorecki, Karl, Adir, Noam, Thomas, Mark G., Kogleck, Larissa, Topaz, Orit, Indelman, Margarita, Uitto, Jouni, Richard, Gabriele, Bradman, Neil, Sprecher, Eli
Formato: Artigo
Idioma:Inglês
Publicado em: 2007
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Article
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC3169318/
https://ncbi.nlm.nih.gov/pubmed/18094730
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/sj.jid.5701203
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