de Pontual, Loïc <br/><br/>
Mutational, functional, and expression studies of the TCF4 gene in Pitt-Hopkins syndrome.  [electronic resource] 

 -  Human mutation  Apr 2009 
 - 669-76 p.  digital 
<br/><br/> Publication Type: Journal Article; Research Support, Non-U.S. Gov't 
<br/><br/><label>ISSN: </label>1098-1004 
<br/><br/><label>Standard No.: </label>10.1002/humu.20935  doi 
<br/><br/><label>Subjects--Topical Terms: </label><br/>Abnormalities, Multiple--genetics<br/>Adolescent<br/>Adult<br/>Basic Helix-Loop-Helix Leucine Zipper Transcription Factors<br/>Child<br/>Child, Preschool<br/>DNA-Binding Proteins--chemistry<br/>Dimerization<br/>Electroencephalography<br/>Female<br/>Gene Expression Profiling<br/>Gene Expression Regulation, Developmental<br/>HeLa Cells<br/>Humans<br/>Hyperventilation--pathology<br/>Immunohistochemistry<br/>In Situ Hybridization<br/>Infant<br/>Intellectual Disability--pathology<br/>Luciferases--genetics<br/>Magnetic Resonance Imaging<br/>Male<br/>Mutation<br/>Reverse Transcriptase Polymerase Chain Reaction<br/>Syndrome<br/>Transcription Factor 4<br/>Transcription Factors--chemistry<br/>Young Adult