Brockschmidt, Antje <br/><br/>
Severe mental retardation with breathing abnormalities (Pitt-Hopkins syndrome) is caused by haploinsufficiency of the neuronal bHLH transcription factor TCF4.  [electronic resource] 

 -  Human molecular genetics  Jun 2007 
 - 1488-94 p.  digital 
<br/><br/> Publication Type: Case Reports; Journal Article; Research Support, Non-U.S. Gov't 
<br/><br/><label>ISSN: </label>0964-6906 
<br/><br/><label>Standard No.: </label>10.1093/hmg/ddm099  doi 
<br/><br/><label>Subjects--Topical Terms: </label><br/>Animals<br/>Basic Helix-Loop-Helix Leucine Zipper Transcription Factors<br/>Child<br/>Cytogenetic Analysis<br/>DNA-Binding Proteins<br/>Face--abnormalities<br/>Female<br/>Haplotypes<br/>Humans<br/>Hyperventilation--diagnosis<br/>Intellectual Disability--diagnosis<br/>Language Development Disorders--genetics<br/>Models, Genetic<br/>Mutation<br/>Syndrome<br/>TCF Transcription Factors--genetics<br/>Transcription Factor 4<br/>Transcription Factor 7-Like 2 Protein<br/>Transcription Factors<br/>Zebrafish--metabolism