Schuurs-Hoeijmakers, Janneke H M <br/><br/>
Clinical delineation of the PACS1-related syndrome--Report on 19 patients.  [electronic resource] 

 -  American journal of medical genetics. Part A  Mar 2016 
 - 670-5 p.  digital 
<br/><br/> Publication Type: Journal Article; Multicenter Study; Research Support, Non-U.S. Gov't 
<br/><br/><label>ISSN: </label>1552-4833 
<br/><br/><label>Standard No.: </label>10.1002/ajmg.a.37476  doi 
<br/><br/><label>Subjects--Topical Terms: </label><br/>Abnormalities, Multiple--diagnosis<br/>Adolescent<br/>Anticonvulsants--therapeutic use<br/>Child<br/>Child, Preschool<br/>Facies<br/>Failure to Thrive--diagnosis<br/>Female<br/>Gene Expression<br/>Humans<br/>Intellectual Disability--diagnosis<br/>Male<br/>Muscle Hypotonia--diagnosis<br/>Point Mutation<br/>Seizures--diagnosis<br/>Severity of Illness Index<br/>Syndrome<br/>Vesicular Transport Proteins--genetics<br/>Young Adult