Colson, Cindy <br/><br/>
Unusual clinical description of adult with Timothy syndrome, carrier of a new heterozygote mutation of CACNA1C.  [electronic resource] 

 -  European journal of medical genetics  Jul 2019 
 - 103648 p.  digital 
<br/><br/> Publication Type: Case Reports; Journal Article; Review 
<br/><br/><label>ISSN: </label>1878-0849 
<br/><br/><label>Standard No.: </label>10.1016/j.ejmg.2019.04.005  doi 
<br/><br/><label>Subjects--Topical Terms: </label><br/>Adult<br/>Autistic Disorder--genetics<br/>Calcium Channels, L-Type--genetics<br/>Female<br/>Heterozygote<br/>Humans<br/>Long QT Syndrome--genetics<br/>Mutation<br/>Phenotype<br/>Plakophilins--genetics<br/>Syndactyly--genetics