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Results 1 - 3 of 3 for Mandibuloacral dysplasia
  1. Mandibuloacral dysplasia is a condition that causes a variety of abnormalities involving bone development, skin coloring (pigmentation), and ... skull bones; and joint deformities (contractures).People with mandibuloacral dysplasia can have mottled or patchy skin pigmentation or ...
  2. ... in the ZMPSTE24 gene cause a form of mandibuloacral dysplasia called mandibuloacral dysplasia with type B lipodystrophy (MADB). This condition is ... Zackai E, Medne L, Garg A. Early onset mandibuloacral dysplasia due to compound heterozygous mutations in ZMPSTE24. Am ...
  3. ... least four mutations in the LMNA gene cause mandibuloacral dysplasia type A (MADA). This condition is characterized by ... to those of Hutchinson-Gilford progeria syndrome and mandibuloacral dysplasia. As in Hutchinson-Gilford progeria syndrome, children with ...