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

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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Bibliographic Details
Main Authors: Shan Li, Ke-wang Xi, Ting Liu, Ying Zhang, Meng Zhang, Li-dong Zeng, Juan Li
Format: Article
Language:English
Published: BMC 2020-10-01
Series:BMC Medical Genomics
Subjects:
Phelan-McDermid syndrome
SHANK3
22q13 interstitial deletion
Neurodevelopmental disorders
Online Access:http://link.springer.com/article/10.1186/s12920-020-00802-0

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http://link.springer.com/article/10.1186/s12920-020-00802-0

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