Potocki, Lorraine <br/><br/>
Variability in clinical phenotype despite common chromosomal deletion in Smith-Magenis syndrome [del(17)(p11.2p11.2)].  [electronic resource] 

 -  Genetics in medicine : official journal of the American College of Medical Genetics   
 - 430-4 p.  digital 
<br/><br/> Publication Type: Journal Article; Research Support, Non-U.S. Gov't; Research Support, U.S. Gov't, P.H.S. 
<br/><br/><label>ISSN: </label>1098-3600 
<br/><br/><label>Standard No.: </label>10.1097/01.gim.0000095625.14160.ab  doi 
<br/><br/><label>Subjects--Topical Terms: </label><br/>Adolescent<br/>Adult<br/>Child<br/>Child, Preschool<br/>Chromosome Deletion<br/>Chromosomes, Human, Pair 17--genetics<br/>Cytogenetic Analysis<br/>Electrophoresis, Gel, Pulsed-Field<br/>Humans<br/>In Situ Hybridization, Fluorescence<br/>Infant<br/>Intellectual Disability--genetics<br/>Phenotype<br/>Proteins--genetics<br/>Sleep Disorders, Intrinsic--genetics<br/>Syndrome<br/>Trans-Activators<br/>Transcription Factors