Mandibuloacral dysplasia with type B lipodystrophyMeSH Supplementary Concept
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;
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
--- 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