mandibuloacral dysplasia with type-B lipodystrophy

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mandibuloacral dysplasia with type-B lipodystrophy

A rare autosomal recessive disorder (OMIM:608612) characterised by mandibular and clavicular hypoplasia, acroosteolysis, delayed closure of cranial suture, joint contractures and type-B lipodystrophy, which is characterised by a generalised loss of fat. 

Molecular pathology
Caused by defects of ZMPSTE24, which encodes a zinc metalloproteinase involved in the post-translational proteolytic cleavage of farnesylated prelamin A to form mature lamin A.
References in periodicals archive ?
Of course, in this area of MADB reform (as in so many others), policy-makers in Myanmar need not re-invent the wheel.
In 2011, the maximum per-acre loan from the MADB was K40,000 and, in 2010, K20,000.
import duties and taxes applicable to a minimum of 108 designated customs areas to be part of the Tariffs section of the MADB,