Fraternal twins with Phelan-McDermid syndrome not involving the SHANK3 gene: case report and literature review

Phelan-McDermid syndrome (PMS, OMIM#606232), or 22q13 deletion syndrome, is a rare genetic disorder caused by deletion of the distal long arm of chromosome 22 with a variety of clinical features that display c...
Source: BMC Medical Genomics - Category: Genetics & Stem Cells Authors: Tags: Case report Source Type: research