Baas, Annette F <br/><br/>
Agenesis of the corpus callosum and gray matter heterotopia in three patients with constitutional mismatch repair deficiency syndrome.  [electronic resource] 

 -  European journal of human genetics : EJHG  Jan 2013 
 - 55-61 p.  digital 
<br/><br/> Publication Type: Case Reports; 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.2012.117  doi 
<br/><br/><label>Subjects--Topical Terms: </label><br/>Adaptor Proteins, Signal Transducing--genetics<br/>Adenosine Triphosphatases--genetics<br/>Agenesis of Corpus Callosum--genetics<br/>Child<br/>Child, Preschool<br/>Contractile Proteins--genetics<br/>DNA Repair Enzymes--genetics<br/>DNA Repair-Deficiency Disorders--etiology<br/>DNA-Binding Proteins--genetics<br/>Female<br/>Filamins<br/>Glioblastoma--complications<br/>Humans<br/>Male<br/>Malformations of Cortical Development, Group II--genetics<br/>Microfilament Proteins--genetics<br/>Microsatellite Instability<br/>Mismatch Repair Endonuclease PMS2<br/>MutL Protein Homolog 1<br/>Mutation<br/>Nuclear Proteins--genetics<br/>Parotid Neoplasms--complications<br/>Pregnancy<br/>Syndrome