Faguer, Stanislas <br/><br/>
A 10 Mb duplication in chromosome band 5q31.3-5q33.1 associated with late-onset lipodystrophy, ichthyosis, epilepsy and glomerulonephritis.  [electronic resource] 

 -  European journal of medical genetics   
 - 310-3 p.  digital 
<br/><br/> Publication Type: Case Reports; Journal Article 
<br/><br/><label>ISSN: </label>1878-0849 
<br/><br/><label>Standard No.: </label>10.1016/j.ejmg.2011.01.005  doi 
<br/><br/><label>Subjects--Topical Terms: </label><br/>Abnormalities, Multiple--genetics<br/>Adult<br/>Chromosome Aberrations<br/>Chromosome Banding<br/>Chromosome Disorders--genetics<br/>Chromosomes, Human, Pair 5--genetics<br/>Comparative Genomic Hybridization<br/>Epilepsy--pathology<br/>Female<br/>Gene Duplication<br/>Glomerulonephritis--pathology<br/>Humans<br/>Ichthyosis--pathology<br/>Intellectual Disability--pathology<br/>Lipodystrophy--pathology