Hanson, Dan <br/><br/>
Exome sequencing identifies CCDC8 mutations in 3-M syndrome, suggesting that CCDC8 contributes in a pathway with CUL7 and OBSL1 to control human growth.  [electronic resource] 

 -  American journal of human genetics  Jul 2011 
 - 148-53 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>1537-6605 
<br/><br/><label>Standard No.: </label>10.1016/j.ajhg.2011.05.028  doi 
<br/><br/><label>Subjects--Topical Terms: </label><br/>Cell Line<br/>Child, Preschool<br/>Cullin Proteins--genetics<br/>Cytoskeletal Proteins--genetics<br/>Dwarfism--genetics<br/>Female<br/>Gene Expression<br/>Homozygote<br/>Humans<br/>Infant<br/>Intellectual Disability--genetics<br/>Male<br/>Muscle Hypotonia--genetics<br/>Mutation<br/>Reverse Transcriptase Polymerase Chain Reaction<br/>Spine--abnormalities<br/>Transcription Factors