Mandibuloacral dysplasia with type B lipodystrophy
Autosomal recessive disorder characterized by mandibular and clavicular hypoplasia, acroosteolysis, delayed closure of cranial sutures, joint contractures, and mottled cutaneous pigmentation. Associated with mutations in the gene encoding ZMPSTE24 protein.
Also Known As:
Lipodystrophy, type B, associated with mandibuloacral dysplasia
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Bio-Agent Context: Research Results