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familial tumoral calcinosis

MIM.211900

Tuesday 11 May 2004

Familial tumoral calcinosis (MIM.211900) is a severe autosomal recessive metabolic disorder that manifests with hyperphosphatemia and massive calcium deposits in the skin and subcutaneous tissues.

Etiology

- mutations in GALNT3, encoding a protein involved in O-linked glycosylation (MIM.601756) (15133511)