New Pachygyria Syndrome Linked to Actin Regulation Identified: When mutated, CTNNA2 leads to a new form of pachygyria that has a diffuse anterior-posterior gradient with cerebellar hypoplasia, thinning corpus callosum, and absent anterior commissure.  [electronic resource] 

 -  American journal of medical genetics. Part A  11 2018 
 - 2234-2235 p.  digital 
<br/><br/> Publication Type: Journal Article 
<br/><br/><label>ISSN: </label>1552-4833 
<br/><br/><label>Standard No.: </label>10.1002/ajmg.a.60672  doi 
<br/><br/><label>Subjects--Topical Terms: </label><br/>Actins--metabolism<br/>Anterior Commissure, Brain--abnormalities<br/>Cerebellum--abnormalities<br/>Corpus Callosum--diagnostic imaging<br/>Developmental Disabilities--complications<br/>Humans<br/>Lissencephaly--complications<br/>Mutation--genetics<br/>Nervous System Malformations--complications<br/>Syndrome<br/>alpha Catenin--genetics