Frameshift mutation hotspot identified in Smith-Magenis syndrome: case report and review of literature
<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...
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| Main Authors: | , , , |
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| Format: | Book |
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BMC,
2010-10-01T00:00:00Z.
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| Call Number: |
A1234.567 |
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| Copy 1 | Available |