A new study with a woman with Phelan-McDermid Syndrome (PMS) identifies the smallest published SHANK3 deletion to date. The fact that this small deletion results in the full manifestations of PMS reinforces the finding that disruption of the SHANK3 gene results in the full range of Phelan-McDermid Syndrome phenotypes.
For the full paper, visit http://www.ncbi.nlm.nih.gov/pubmed/21271662.