Frameshift mutation hotspot identified in Smith-Magenis syndrome: case report and review of literature

• Main Authors: Dudding Tracy (Author), Truong Hoa T (Author), Blanchard Christopher L (Author), Elsea Sarah H (Author)
• Format: Book
• Published: BMC, 2010-10-01T00:00:00Z.
• Subjects: article
• Online Access: Connect to this object online.

<p>Abstract</p> <p>Smith-Magenis syndrome (SMS) is a complex syndrome involving intellectual disabilities, sleep disturbance, behavioural problems, and a variety of craniofacial, skeletal, and visceral anomalies. While the majority of SMS cases harbor an ~3.5 Mb common deletion on...