Mao, Dongxue <br/><br/>
De novo EIF2AK1 and EIF2AK2 Variants Are Associated with Developmental Delay, Leukoencephalopathy, and Neurologic Decompensation.  [electronic resource] 

 -  American journal of human genetics  04 2020 
 - 570-583 p.  digital 
<br/><br/> Publication Type: Journal Article; Research Support, N.I.H., Extramural; Research Support, N.I.H., Intramural; Research Support, Non-U.S. Gov't 
<br/><br/><label>ISSN: </label>1537-6605 
<br/><br/><label>Standard No.: </label>10.1016/j.ajhg.2020.02.016  doi 
<br/><br/><label>Subjects--Topical Terms: </label><br/>Adolescent<br/>Ataxia--genetics<br/>Child<br/>Child, Preschool<br/>Developmental Disabilities--genetics<br/>Female<br/>Genetic Variation--genetics<br/>Hereditary Central Nervous System Demyelinating Diseases--genetics<br/>Humans<br/>Infant<br/>Leukoencephalopathies--genetics<br/>Male<br/>Nervous System Malformations--genetics<br/>White Matter--pathology<br/>eIF-2 Kinase--genetics