Alwadei, Ali H <br/><br/>
Loss-of-function mutation in RUSC2 causes intellectual disability and secondary microcephaly.  [electronic resource] 

 -  Developmental medicine and child neurology  Dec 2016 
 - 1317-1322 p.  digital 
<br/><br/> Publication Type: Case Reports; Journal Article 
<br/><br/><label>ISSN: </label>1469-8749 
<br/><br/><label>Standard No.: </label>10.1111/dmcn.13250  doi 
<br/><br/><label>Subjects--Topical Terms: </label><br/>Adolescent<br/>Agenesis of Corpus Callosum--genetics<br/>Carrier Proteins--genetics<br/>Child<br/>Epilepsy--genetics<br/>Female<br/>Humans<br/>Intellectual Disability--genetics<br/>Male<br/>Microcephaly--genetics<br/>Muscle Hypotonia--genetics<br/>Mutation<br/>Pedigree