Laboratory for Molecular Diagnostics
Center for Nephrology and Metabolic Disorders
Familial normophosphatemic tumoral calcinosis is an autosomal recessive disorder caused by mutations of the SAMD9 gene.
Familial tumoral calcinosis
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Familial normophosphatemic tumoral calcinosis
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SAMD9
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Hyperphosphatemic familial tumoral calcinosis
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| 1. |
Topaz O et al. (2004) Mutations in GALNT3, encoding a protein involved in O-linked glycosylation, cause familial tumoral calcinosis. 
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Topaz O et al. (2006) A deleterious mutation in SAMD9 causes normophosphatemic familial tumoral calcinosis.
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Chefetz I et al. (2008) Normophosphatemic familial tumoral calcinosis is caused by deleterious mutations in SAMD9, encoding a TNF-alpha responsive protein.
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Metzker A et al. (1988) Tumoral calcinosis revisited--common and uncommon features. Report of ten cases and review.
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