Jouan, Loubna <br/><br/>
Exome sequencing identifies recessive CDK5RAP2 variants in patients with isolated agenesis of corpus callosum.  [electronic resource] 

 -  European journal of human genetics : EJHG  Apr 2016 
 - 607-10 p.  digital 
<br/><br/> Publication Type: Journal Article; Research Support, Non-U.S. Gov't 
<br/><br/><label>ISSN: </label>1476-5438 
<br/><br/><label>Standard No.: </label>10.1038/ejhg.2015.156  doi 
<br/><br/><label>Subjects--Topical Terms: </label><br/>Adult<br/>Agenesis of Corpus Callosum--diagnosis<br/>Cell Cycle Proteins<br/>Exome<br/>Female<br/>Heterozygote<br/>Humans<br/>Intracellular Signaling Peptides and Proteins--genetics<br/>Male<br/>Middle Aged<br/>Mutation, Missense<br/>Nerve Tissue Proteins--genetics<br/>Siblings