Fraternal twins with Phelan-McDermid syndrome not involving the SHANK3 gene: case report and literature review
Abstract Background 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 considerably heterogeneous degrees of severity. The SHANK3 gene is under...
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2020-10-01T00:00:00Z.
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