Mary, Laura <br/><br/>
Disease-causing variants in TCF4 are a frequent cause of intellectual disability: lessons from large-scale sequencing approaches in diagnosis.  [electronic resource] 

 -  European journal of human genetics : EJHG  07 2018 
 - 996-1006 p.  digital 
<br/><br/> Publication Type: Journal Article; Research Support, Non-U.S. Gov't 
<br/><br/><label>ISSN: </label>1476-5438 
<br/><br/><label>Standard No.: </label>10.1038/s41431-018-0096-4  doi 
<br/><br/><label>Subjects--Topical Terms: </label><br/>Adolescent<br/>Adult<br/>Child<br/>Child, Preschool<br/>Facies<br/>Female<br/>High-Throughput Nucleotide Sequencing<br/>Humans<br/>Hyperventilation--diagnosis<br/>Intellectual Disability--diagnosis<br/>Male<br/>Mutation<br/>Phenotype<br/>Transcription Factor 4--genetics<br/>Young Adult