Mannini, Linda <br/><br/>
Mutation spectrum and genotype-phenotype correlation in Cornelia de Lange syndrome.  [electronic resource] 

 -  Human mutation  Dec 2013 
 - 1589-96 p.  digital 
<br/><br/> Publication Type: Journal Article; Research Support, N.I.H., Extramural; Review 
<br/><br/><label>ISSN: </label>1098-1004 
<br/><br/><label>Standard No.: </label>10.1002/humu.22430  doi 
<br/><br/><label>Subjects--Topical Terms: </label><br/>Cell Cycle Proteins--genetics<br/>Chondroitin Sulfate Proteoglycans--genetics<br/>Chromosomal Proteins, Non-Histone--genetics<br/>DNA-Binding Proteins<br/>De Lange Syndrome--diagnosis<br/>Facies<br/>Gene Expression<br/>Genetic Association Studies<br/>Genotype<br/>Humans<br/>Mutation<br/>Nuclear Proteins--genetics<br/>Phenotype<br/>Phosphoproteins--genetics<br/>Proteins--genetics<br/>Cohesins<br/>Structural Maintenance of Chromosome Protein 1