Zinc metalloproteinase, ZMPSTE24, is mutated in mandibuloacral dysplasia.

@article{Agarwal2003ZincMZ,
  title={Zinc metalloproteinase, ZMPSTE24, is mutated in mandibuloacral dysplasia.},
  author={Anil kumar Agarwal and J E Fryns and Richard J Auchus and Abhimanyu Garg},
  journal={Human molecular genetics},
  year={2003},
  volume={12 16},
  pages={1995-2001}
}
Mandibuloacral dysplasia (MAD; OMIM 248370) is a rare, genetically and phenotypically heterogeneous, autosomal recessive disorder characterized by skeletal abnormalities including hypoplasia of the mandible and clavicles, acro-osteolysis, cutaneous atrophy and lipodystrophy. A homozygous missense mutation, Arg527His, in the LMNA gene which encodes nuclear lamina proteins lamins A and C has been reported in patients with MAD and partial lipodystrophy. We studied four patients with MAD who had no… CONTINUE READING
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