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

• Main Authors: Shan Li (Author), Ke-wang Xi (Author), Ting Liu (Author), Ying Zhang (Author), Meng Zhang (Author), Li-dong Zeng (Author), Juan Li (Author)
• Format: Bog
• Udgivet: BMC, 2020-10-01T00:00:00Z.
• Fag: article
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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...