Van Maldergem, L <br/><br/>
Genotype-phenotype relationships in Berardinelli-Seip congenital lipodystrophy.  [electronic resource] 

 -  Journal of medical genetics  Oct 2002 
 - 722-33 p.  digital 
<br/><br/> Publication Type: Comparative Study; Journal Article; Research Support, Non-U.S. Gov't 
<br/><br/><label>ISSN: </label>1468-6244 
<br/><br/><label>Standard No.: </label>10.1136/jmg.39.10.722  doi 
<br/><br/><label>Subjects--Topical Terms: </label><br/>Adolescent<br/>Adult<br/>Age of Onset<br/>Alleles<br/>Cohort Studies<br/>Female<br/>GTP-Binding Protein gamma Subunits<br/>Genotype<br/>Heterotrimeric GTP-Binding Proteins--genetics<br/>Humans<br/>Hyperlipidemias--genetics<br/>Infant<br/>Infant, Newborn<br/>Lipodystrophy--congenital<br/>Male<br/>Mutation--genetics<br/>Pedigree<br/>Phenotype<br/>Protein Isoforms--genetics