Tüysüz, Beyhan <br/><br/>
Mucolipidosis type IV in a Turkish boy associated with a novel MCOLN1 mutation.  [electronic resource] 

 -  Brain & development  Oct 2009 
 - 702-5 p.  digital 
<br/><br/> Publication Type: Case Reports; Journal Article 
<br/><br/><label>ISSN: </label>1872-7131 
<br/><br/><label>Standard No.: </label>10.1016/j.braindev.2008.10.001  doi 
<br/><br/><label>Subjects--Topical Terms: </label><br/>Child<br/>Corpus Callosum--pathology<br/>Genetic Predisposition to Disease<br/>Humans<br/>Internal Capsule--pathology<br/>Magnetic Resonance Imaging<br/>Male<br/>Micrognathism--pathology<br/>Mucolipidoses--diagnosis<br/>Phenotype<br/>Point Mutation--genetics<br/>TRPM Cation Channels--genetics<br/>Transient Receptor Potential Channels<br/>Turkey