Ben Yaou, Rabah <br/><br/>
Type B mandibuloacral dysplasia with congenital myopathy due to homozygous ZMPSTE24 missense mutation.  [electronic resource] 

 -  European journal of human genetics : EJHG  Jun 2011 
 - 647-54 p.  digital 
<br/><br/> Publication Type: Case Reports; Journal Article; Research Support, Non-U.S. Gov't 
<br/><br/><label>ISSN: </label>1476-5438 
<br/><br/><label>Standard No.: </label>10.1038/ejhg.2010.256  doi 
<br/><br/><label>Subjects--Topical Terms: </label><br/>Abnormalities, Multiple--genetics<br/>Acro-Osteolysis--complications<br/>Adult<br/>Amino Acid Sequence<br/>Cell Culture Techniques<br/>Female<br/>Fibroblasts<br/>Heterozygote<br/>Homozygote<br/>Humans<br/>Lamin Type A--genetics<br/>Lipodystrophy--complications<br/>Mandible--abnormalities<br/>Membrane Proteins--genetics<br/>Metalloendopeptidases--genetics<br/>Molecular Sequence Data<br/>Muscular Dystrophies--complications<br/>Mutation<br/>Mutation, Missense<br/>Myopathies, Structural, Congenital--complications<br/>Nuclear Proteins--genetics<br/>Phenotype<br/>Progeria--complications<br/>Protein Precursors--genetics