A Deleterious Mutation in SAMD9 Causes Normophosphatemic Familial Tumoral Calcinosis

Familial tumoral calcinosis (FTC) is a rare autosomal recessive disorder characterized by the progressive deposition of calcified masses in cutaneous and subcutaneous tissues, which results in painful ulcerative lesions and severe skin and bone infections. Two major types of FTC have been recognized...

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Autori principali: Topaz, Orit, Indelman, Margarita, Chefetz, Ilana, Geiger, Dan, Metzker, Aryeh, Altschuler, Yoram, Choder, Mordechai, Bercovich, Dani, Uitto, Jouni, Bergman, Reuven, Richard, Gabriele, Sprecher, Eli
Natura: Artigo
Lingua:Inglês
Pubblicazione: The American Society of Human Genetics 2006
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Accesso online:https://ncbi.nlm.nih.gov/pmc/articles/PMC1592555/
https://ncbi.nlm.nih.gov/pubmed/16960814
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