Moortgat, Stéphanie <br/><br/>
Two novel EIF2S3 mutations associated with syndromic intellectual disability with severe microcephaly, growth retardation, and epilepsy.  [electronic resource] 

 -  American journal of medical genetics. Part A  11 2016 
 - 2927-2933 p.  digital 
<br/><br/> Publication Type: Journal Article; Research Support, Non-U.S. Gov't 
<br/><br/><label>ISSN: </label>1552-4833 
<br/><br/><label>Standard No.: </label>10.1002/ajmg.a.37792  doi 
<br/><br/><label>Subjects--Topical Terms: </label><br/>Adolescent<br/>Alleles<br/>Amino Acid Sequence<br/>Animals<br/>Brain--pathology<br/>Disease Models, Animal<br/>Epilepsy--diagnosis<br/>Eukaryotic Initiation Factor-2--genetics<br/>Exome<br/>Facies<br/>Female<br/>Gene Knockdown Techniques<br/>Genes, X-Linked<br/>Genetic Association Studies<br/>Genotype<br/>Growth Disorders--diagnosis<br/>High-Throughput Nucleotide Sequencing<br/>Humans<br/>Intellectual Disability--diagnosis<br/>Magnetic Resonance Imaging<br/>Male<br/>Microcephaly--diagnosis<br/>Mutation<br/>Pedigree<br/>Phenotype<br/>Syndrome<br/>Zebrafish