Srivastava, Siddharth <br/><br/>
BRAT1 mutations present with a spectrum of clinical severity.  [electronic resource] 

 -  American journal of medical genetics. Part A  09 2016 
 - 2265-73 p.  digital 
<br/><br/> Publication Type: Case Reports; Journal Article; Review; Research Support, N.I.H., Extramural 
<br/><br/><label>ISSN: </label>1552-4833 
<br/><br/><label>Standard No.: </label>10.1002/ajmg.a.37783  doi 
<br/><br/><label>Subjects--Topical Terms: </label><br/>Brain--pathology<br/>Cerebellum--abnormalities<br/>Child<br/>Child, Preschool<br/>Comparative Genomic Hybridization<br/>DNA Mutational Analysis<br/>Epilepsy--diagnosis<br/>Exome<br/>Facies<br/>Female<br/>Genetic Association Studies<br/>High-Throughput Nucleotide Sequencing<br/>Humans<br/>Infant<br/>Intellectual Disability--diagnosis<br/>Magnetic Resonance Imaging<br/>Male<br/>Mutation<br/>Nuclear Proteins--genetics<br/>Pedigree<br/>Phenotype<br/>Severity of Illness Index