IDENTIFICATION OF LOCI CONTRIBUTING TO THE SMITH-MAGENIS SYNDROME-LIKE PHENOTYPE AND MOLECULAR EVALUATION OF THE RETINOIC ACID INDUCED 1 GENE
Smith-Magenis syndrome (SMS) is a multiple congenital abnormalities intellectual disability syndrome that results from a deletion of chromosome 17p11.2 or mutation of the retinoic acid inducted one gene (RAI1). SMS is characterized by a multitude of phenotypic features including craniofacial defect...
| Main Author: | |
|---|---|
| Format: | Others |
| Published: |
VCU Scholars Compass
2010
|
| Subjects: | |
| Online Access: | http://scholarscompass.vcu.edu/etd/65 http://scholarscompass.vcu.edu/cgi/viewcontent.cgi?article=1064&context=etd |