Seabra, Catarina M <br/><br/>
A novel microduplication of ARID1B: Clinical, genetic, and proteomic findings.  [electronic resource] 

 -  American journal of medical genetics. Part A  Sep 2017 
 - 2478-2484 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.38327  doi 
<br/><br/><label>Subjects--Topical Terms: </label><br/>Abnormalities, Multiple<br/>Adolescent<br/>DNA-Binding Proteins--genetics<br/>Developmental Disabilities--genetics<br/>Face--physiopathology<br/>Gene Duplication--genetics<br/>Hand Deformities, Congenital--genetics<br/>Haploinsufficiency--genetics<br/>Humans<br/>In Situ Hybridization, Fluorescence<br/>Intellectual Disability--genetics<br/>Male<br/>Mutation<br/>Proteomics<br/>Transcription Factors--genetics