Disease | hyperphosphatemia |
Symptom | C0263628|tumoral calcinosis |
Sentences | 2 |
PubMedID- 21854633 | Gain-of-function mutations of fgf23 lead to autosomal dominant hypophosphatemia/osteomalacia . |
PubMedID- 26266068 | Primary tumoral calcinosis without hyperphosphatemia is the most common clinical subtype , but approximately 30% of cases are familial and associated with hyperphosphatemia due to the mutation of a gene that encodes fibroblast growth factor-23 or n-acetyl-galactosaminyl transferase enzyme . |
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