Familial normophosphatemic tumoral calcinosis is an autosomal recessive disorder caused by mutations of the SAMD9 gene.
Familial tumoral calcinosis | ||||
Familial normophosphatemic tumoral calcinosis | ||||
SAMD9 | ||||
Hyperphosphatemic familial tumoral calcinosis | ||||
1. |
Topaz O et al. (2004) Mutations in GALNT3, encoding a protein involved in O-linked glycosylation, cause familial tumoral calcinosis. |
2. |
Topaz O et al. (2006) A deleterious mutation in SAMD9 causes normophosphatemic familial tumoral calcinosis. |
3. |
Chefetz I et al. (2008) Normophosphatemic familial tumoral calcinosis is caused by deleterious mutations in SAMD9, encoding a TNF-alpha responsive protein. |
4. |
Metzker A et al. (1988) Tumoral calcinosis revisited--common and uncommon features. Report of ten cases and review. |