Lee, C Y <br/><br/>
A spontaneous missense mutation in the chromodomain helicase DNA-binding protein 8 (CHD8) gene: a novel association with congenital myasthenic syndrome.  [electronic resource] 

 -  Neuropathology and applied neurobiology  10 2020 
 - 588-601 p.  digital 
<br/><br/> Publication Type: Case Reports; Journal Article; Research Support, Non-U.S. Gov't; Twin Study 
<br/><br/><label>ISSN: </label>1365-2990 
<br/><br/><label>Standard No.: </label>10.1111/nan.12617  doi 
<br/><br/><label>Subjects--Topical Terms: </label><br/>Adolescent<br/>DNA-Binding Proteins--genetics<br/>Female<br/>Humans<br/>Immunohistochemistry<br/>Muscle Proteins--genetics<br/>Mutation, Missense--genetics<br/>Myasthenic Syndromes, Congenital--genetics<br/>Neuromuscular Junction--pathology<br/>Transcription Factors--genetics<br/>Twins, Monozygotic<br/>Exome Sequencing