Santen, Gijs W E <br/><br/>
Coffin-Siris syndrome and the BAF complex: genotype-phenotype study in 63 patients.  [electronic resource] 

 -  Human mutation  Nov 2013 
 - 1519-28 p.  digital 
<br/><br/> Publication Type: Journal Article 
<br/><br/><label>ISSN: </label>1098-1004 
<br/><br/><label>Standard No.: </label>10.1002/humu.22394  doi 
<br/><br/><label>Subjects--Topical Terms: </label><br/>Abnormalities, Multiple--diagnosis<br/>Chromosomal Proteins, Non-Histone--genetics<br/>DNA Helicases--genetics<br/>DNA-Binding Proteins--genetics<br/>Exons<br/>Face--abnormalities<br/>Facies<br/>Gene Order<br/>Genetic Association Studies<br/>Hand Deformities, Congenital--diagnosis<br/>Humans<br/>Intellectual Disability--diagnosis<br/>Micrognathism--diagnosis<br/>Multiprotein Complexes--genetics<br/>Neck--abnormalities<br/>Nuclear Proteins--genetics<br/>Phenotype<br/>SMARCB1 Protein<br/>Transcription Factors--genetics