Article
Normophosphatemic familial tumoral calcinosis is caused by deleterious mutations in SAMD9, encoding a TNF-alpha responsive protein.
The Journal of investigative dermatology - 1 Jun 2008
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
Abstract excerpt
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, was recently shown to cause NFTC in five families of Jewish-Yemenite origin. In this study, we evaluated another...
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