Jansen, S <br/><br/>
De novo loss-of-function mutations in X-linked SMC1A cause severe ID and therapy-resistant epilepsy in females: expanding the phenotypic spectrum.  [electronic resource] 

 -  Clinical genetics  11 2016 
 - 413-419 p.  digital 
<br/><br/> Publication Type: Case Reports; Journal Article; Research Support, Non-U.S. Gov't 
<br/><br/><label>ISSN: </label>1399-0004 
<br/><br/><label>Standard No.: </label>10.1111/cge.12729  doi 
<br/><br/><label>Subjects--Topical Terms: </label><br/>Adolescent<br/>Cell Cycle Proteins--genetics<br/>Chromosomal Proteins, Non-Histone--genetics<br/>De Lange Syndrome--genetics<br/>Drug Resistance--genetics<br/>Epilepsy--drug therapy<br/>Exons--genetics<br/>Female<br/>Genes, X-Linked<br/>Humans<br/>Intellectual Disability--genetics<br/>Male<br/>Middle Aged<br/>Phenotype<br/>RNA, Messenger--genetics<br/>Sequence Deletion<br/>Structural Maintenance of Chromosome Protein 1