Konrad, Enrico D H <br/><br/>
CTCF variants in 39 individuals with a variable neurodevelopmental disorder broaden the mutational and clinical spectrum.  [electronic resource] 

 -  Genetics in medicine : official journal of the American College of Medical Genetics  12 2019 
 - 2723-2733 p.  digital 
<br/><br/> Publication Type: Journal Article; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't 
<br/><br/><label>ISSN: </label>1530-0366 
<br/><br/><label>Standard No.: </label>10.1038/s41436-019-0585-z  doi 
<br/><br/><label>Subjects--Topical Terms: </label><br/>Animals<br/>CCCTC-Binding Factor--genetics<br/>Child<br/>Chromatin--genetics<br/>Developmental Disabilities--genetics<br/>Drosophila Proteins--genetics<br/>Drosophila melanogaster--genetics<br/>Female<br/>Gene Expression Profiling--methods<br/>Gene Expression Regulation--genetics<br/>Humans<br/>Intellectual Disability--genetics<br/>Male<br/>Mutation--genetics<br/>Mutation, Missense--genetics<br/>Neurodevelopmental Disorders--genetics<br/>Transcription Factors--genetics<br/>Exome Sequencing--methods<br/>Young Adult