Bartsch, Oliver <br/><br/>
A girl with an atypical form of ataxia telangiectasia and an additional de novo 3.14 Mb microduplication in region 19q12.  [electronic resource] 

 -  European journal of medical genetics  Jan 2012 
 - 49-55 p.  digital 
<br/><br/> Publication Type: Case Reports; Journal Article; Research Support, Non-U.S. Gov't 
<br/><br/><label>ISSN: </label>1878-0849 
<br/><br/><label>Standard No.: </label>10.1016/j.ejmg.2011.08.001  doi 
<br/><br/><label>Subjects--Topical Terms: </label><br/>Apoptosis Regulatory Proteins--genetics<br/>Ataxia Telangiectasia--diagnosis<br/>Ataxia Telangiectasia Mutated Proteins<br/>Cell Cycle Proteins--genetics<br/>Child<br/>Chromosome Duplication<br/>Chromosome Inversion<br/>Chromosomes, Human, Pair 19--genetics<br/>DNA Damage<br/>DNA-Binding Proteins--genetics<br/>Female<br/>Humans<br/>Lymphocytes--cytology<br/>Mental Disorders--genetics<br/>Metaphase<br/>Microcephaly--genetics<br/>Protein Serine-Threonine Kinases--genetics<br/>Saliva--cytology<br/>Tumor Suppressor Proteins--genetics