Jenkinson, Emma M <br/><br/>
Mutations in SNORD118 cause the cerebral microangiopathy leukoencephalopathy with calcifications and cysts.  [electronic resource] 

 -  Nature genetics  10 2016 
 - 1185-92 p.  digital 
<br/><br/> Publication Type: Journal Article; Research Support, Non-U.S. Gov't 
<br/><br/><label>ISSN: </label>1546-1718 
<br/><br/><label>Standard No.: </label>10.1038/ng.3661  doi 
<br/><br/><label>Subjects--Topical Terms: </label><br/>Adolescent<br/>Adult<br/>Calcinosis--genetics<br/>Cell Line<br/>Cerebral Small Vessel Diseases--genetics<br/>Child<br/>Child, Preschool<br/>Chromosomes, Human, Pair 17<br/>Cohort Studies<br/>Cysts--genetics<br/>Exome<br/>Female<br/>Genetic Linkage<br/>Genome, Human<br/>Humans<br/>Infant<br/>Leukoencephalopathies--genetics<br/>Male<br/>Middle Aged<br/>Mutation<br/>RNA, Small Nucleolar--genetics<br/>Sequence Analysis, DNA<br/>Young Adult