Lim, Byung Chan <br/><br/>
De novo interstitial deletion of 3q22.3-q25.2 encompassing FOXL2, ATR, ZIC1, and ZIC4 in a patient with blepharophimosis/ptosis/epicanthus inversus syndrome, Dandy-Walker malformation, and global developmental delay.  [electronic resource] 

 -  Journal of child neurology  May 2011 
 - 615-8 p.  digital 
<br/><br/> Publication Type: Case Reports; Journal Article; Research Support, Non-U.S. Gov't 
<br/><br/><label>ISSN: </label>1708-8283 
<br/><br/><label>Standard No.: </label>10.1177/0883073810384996  doi 
<br/><br/><label>Subjects--Topical Terms: </label><br/>Ataxia Telangiectasia Mutated Proteins<br/>Blepharophimosis--complications<br/>Blepharoptosis<br/>Cell Cycle Proteins--genetics<br/>Chromosomes, Human, Pair 3--genetics<br/>Dandy-Walker Syndrome--complications<br/>Developmental Disabilities--complications<br/>Forkhead Box Protein L2<br/>Forkhead Transcription Factors--genetics<br/>Humans<br/>Infant<br/>Intellectual Disability--genetics<br/>Magnetic Resonance Imaging<br/>Male<br/>Nerve Tissue Proteins--genetics<br/>Protein Serine-Threonine Kinases--genetics<br/>Sequence Deletion--genetics<br/>Transcription Factors--genetics