The identification of <i>MAFB</i> mutations in eight patients with multicentric carpo–tarsal osteolysis supports genetic homogeneity but clinical variability

Abstract excerpt

Multicentric carpo-tarsal osteolysis (MCTO) with or without nephropathy is a rare osteolysis disorder beginning in early childhood and involving mainly carpal and tarsal bones. Renal disease appears later in life in the majority of cases and evolves quickly to end stage renal failure. Autosomal dominant (AD) inheritance has been demonstrated, with a high frequency of sporadic cases. Recently, mutations in a...

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