Graul-Neumann, Luitgard M <br/><br/>
Highly variable cutis laxa resulting from a dominant splicing mutation of the elastin gene.  [electronic resource] 

 -  American journal of medical genetics. Part A  Apr 2008 
 - 977-83 p.  digital 
<br/><br/> Publication Type: Case Reports; Journal Article 
<br/><br/><label>ISSN: </label>1552-4833 
<br/><br/><label>Standard No.: </label>10.1002/ajmg.a.32242  doi 
<br/><br/><label>Subjects--Topical Terms: </label><br/>Adult<br/>Cells, Cultured<br/>Cutis Laxa--diagnosis<br/>Dermis--pathology<br/>Elastin--genetics<br/>Fibroblasts--metabolism<br/>Genes, Dominant<br/>Genetic Predisposition to Disease<br/>Humans<br/>Infant<br/>Male<br/>Microscopy, Electron<br/>Mutation<br/>RNA Splicing