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Mandibuloacral dysplasia
Did you mean mandibulofacial dysplasia?
- 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 ...
- ... 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 ...
- ... 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 ...