Gund, Christian <br/><br/>
Identification of a syndrome comprising microcephaly and intellectual disability but not white matter disease associated with a homozygous c.676C>T p.R226W DEAF1 mutation.  [electronic resource] 

 -  American journal of medical genetics. Part A  May 2016 
 - 1330-2 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.37580  doi 
<br/><br/><label>Subjects--Topical Terms: </label><br/>Adolescent<br/>Chromosome Duplication<br/>DNA-Binding Proteins<br/>Exome<br/>Humans<br/>Intellectual Disability--genetics<br/>Leukoencephalopathies--genetics<br/>Male<br/>Microcephaly--genetics<br/>Muscle Hypotonia--genetics<br/>Mutation<br/>Nuclear Proteins--genetics<br/>Pakistan<br/>Pedigree<br/>Sequence Analysis, DNA<br/>Transcription Factors