The identification of MAFB mutations in eight patients with multicentric carpo-tarsal osteolysis supports genetic homogeneity but clinical variability.

@article{Mehawej2013TheIO,
  title={The identification of MAFB mutations in eight patients with multicentric carpo-tarsal osteolysis supports genetic homogeneity but clinical variability.},
  author={Cybel Mehawej and Jean-Beno{\^i}t Courcet and Genevi{\`e}ve Baujat and Richard Mouy and Marion G{\'e}rard and Isabelle Landru and Morgane Gosselin and Philippe Koehrer and Christiane Mousson and Sylvain Breton and Pierre Quartier and Martine F Le Merrer and Laurence Faivre and Val{\'e}rie Cormier-Daire},
  journal={American journal of medical genetics. Part A},
  year={2013},
  volume={161A 12},
  pages={3023-9}
}
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 highly conserved region of the MAFB gene (v-maf musculoaponeurotic fibrosarcoma oncogene… CONTINUE READING

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