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

• Κύριοι συγγραφείς: Shan Li (Συγγραφέας), Ke-wang Xi (Συγγραφέας), Ting Liu (Συγγραφέας), Ying Zhang (Συγγραφέας), Meng Zhang (Συγγραφέας), Li-dong Zeng (Συγγραφέας), Juan Li (Συγγραφέας)
• Μορφή: Βιβλίο
• Έκδοση: BMC, 2020-10-01T00:00:00Z.
• Θέματα: article
• Διαθέσιμο Online: Connect to this object online.

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...