Ortiz-Madinaveitia, Saturnino <br/><br/>
[Phenotypic variations in Aicardi-Goutieres syndrome caused by RNASEH2B gene mutations: report of two new cases].  [electronic resource] 

 -  Revista de neurologia  Feb 2016 
 - 165-9 p.  digital 
<br/><br/> Publication Type: Case Reports; Journal Article 
<br/><br/><label>ISSN: </label>1576-6578 
<br/><br/><label>Subjects--Topical Terms: </label><br/>Autoimmune Diseases of the Nervous System--diagnostic imaging<br/>Basal Ganglia--diagnostic imaging<br/>Biopterins--cerebrospinal fluid<br/>Calcinosis--etiology<br/>Feeding and Eating Disorders of Childhood--genetics<br/>Genetic Association Studies<br/>Heterozygote<br/>Humans<br/>Infant<br/>Intellectual Disability--genetics<br/>Magnetic Resonance Imaging<br/>Male<br/>Muscle Spasticity--genetics<br/>Mutation, Missense<br/>Neopterin--cerebrospinal fluid<br/>Nervous System Malformations--diagnostic imaging<br/>Neuroimaging<br/>Phenotype<br/>Ribonuclease H--deficiency<br/>Sequence Analysis, DNA