Preferred Label : mandibuloacral dysplasia with type B lipodystrophy;

MeSH note : 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.;

MeSH synonym : lipodystrophy, type B, associated with mandibuloacral dysplasia;

Details


Main resources

You can consult :


http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=FR&Expert=90154
2011
France
scientific and technical information
mandibuloacral dysplasia with type B lipodystrophy
lipodystrophy

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http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=FR&Expert=2457
2006
France
French
resource guides
lipodystrophy
mandible
acro-osteolysis
craniofacial abnormalities
mandibuloacral dysplasia with type B lipodystrophy
mandibuloacral dysplasia with type A lipodystrophy
rare diseases
scientific and technical information

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01/11/2024


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