Low, Karen J <br/><br/>
Hemizygous UBA5 missense mutation unmasks recessive disorder in a patient with infantile-onset encephalopathy, acquired microcephaly, small cerebellum, movement disorder and severe neurodevelopmental delay.  [electronic resource] 

 -  European journal of medical genetics  Feb 2019 
 - 97-102 p.  digital 
<br/><br/> Publication Type: Case Reports; Journal Article 
<br/><br/><label>ISSN: </label>1878-0849 
<br/><br/><label>Standard No.: </label>10.1016/j.ejmg.2018.06.009  doi 
<br/><br/><label>Subjects--Topical Terms: </label><br/>Brain Diseases--genetics<br/>Cerebellum--pathology<br/>Child, Preschool<br/>Developmental Disabilities--genetics<br/>Female<br/>Genes, Recessive<br/>Hemizygote<br/>Humans<br/>Microcephaly--genetics<br/>Movement<br/>Mutation, Missense<br/>Syndrome<br/>Ubiquitin-Activating Enzymes--chemistry