Dorval, Sarah <br/><br/>
A novel RAD21 mutation in a boy with mild Cornelia de Lange presentation: Further delineation of the phenotype.  [electronic resource] 

 -  European journal of medical genetics  Jan 2020 
 - 103620 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.2019.01.010  doi 
<br/><br/><label>Subjects--Topical Terms: </label><br/>Cell Cycle Proteins--genetics<br/>Child<br/>DNA-Binding Proteins--genetics<br/>De Lange Syndrome--genetics<br/>Developmental Disabilities--genetics<br/>Humans<br/>Intellectual Disability--genetics<br/>Male<br/>Mutation--genetics<br/>Phenotype