Schmelzer, Lisa <br/><br/>
Variable clinical phenotype in two siblings with Aicardi-Goutières syndrome type 6 and a novel mutation in the ADAR gene.  [electronic resource] 

 -  European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society  Jan 2018 
 - 186-189 p.  digital 
<br/><br/> Publication Type: Journal Article 
<br/><br/><label>ISSN: </label>1532-2130 
<br/><br/><label>Standard No.: </label>10.1016/j.ejpn.2017.11.003  doi 
<br/><br/><label>Subjects--Topical Terms: </label><br/>Adenosine Deaminase--genetics<br/>Adolescent<br/>Autoimmune Diseases of the Nervous System--diagnosis<br/>Child, Preschool<br/>Female<br/>Humans<br/>Male<br/>Mutation<br/>Nervous System Malformations--diagnosis<br/>Phenotype<br/>RNA-Binding Proteins--genetics