McMillan, Hugh J <br/><br/>
Congenital Visual Impairment and Progressive Microcephaly Due to Lysyl-Transfer Ribonucleic Acid (RNA) Synthetase (KARS) Mutations: The Expanding Phenotype of Aminoacyl-Transfer RNA Synthetase Mutations in Human Disease.  [electronic resource] 

 -  Journal of child neurology  Jul 2015 
 - 1037-43 p.  digital 
<br/><br/> Publication Type: Case Reports; Journal Article; Research Support, Non-U.S. Gov't 
<br/><br/><label>ISSN: </label>1708-8283 
<br/><br/><label>Standard No.: </label>10.1177/0883073814553272  doi 
<br/><br/><label>Subjects--Topical Terms: </label><br/>Child<br/>DNA Mutational Analysis<br/>Disease Progression<br/>Humans<br/>Longitudinal Studies<br/>Lysine-tRNA Ligase--genetics<br/>Male<br/>Microcephaly--complications<br/>Mutation--genetics<br/>Phenotype<br/>Vision Disorders--complications