A 29 Mainland Chinese cohort of patients with Phelan–McDermid syndrome: genotype–phenotype correlations and the role of SHANK3 haploinsufficiency in the important phenotypes

A 29 Mainland Chinese cohort of patients with Phelan–McDermid syndrome: genotype–phenotype correlations and the role of SHANK3 haploinsufficiency in the important phenotypes

Abstract Background Phelan–McDermid syndrome (PMS) or 22q13 deletion syndrome is a rare developmental disorder characterized by hypotonia, developmental delay (DD), intellectual disability (ID), autism spectrum disorder (ASD) and dysmorphic features. Most cases are caused by 22q13 deletions encompas...

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Bibliographic Details
Main Authors: Na Xu, Hui Lv, Tingting Yang, Xiujuan Du, Yu Sun, Bing Xiao, Yanjie Fan, Xiaomei Luo, Yongkun Zhan, Lili Wang, Fei Li, Yongguo Yu
Format: Article
Language:English
Published: BMC 2020-11-01
Series:Orphanet Journal of Rare Diseases
Subjects:
Phelan–McDermid syndrome (PMS)
Mainland China
SHANK3 haploinsufficiency
Genotype–phenotype correlation
Online Access:https://doi.org/10.1186/s13023-020-01592-5

Internet

https://doi.org/10.1186/s13023-020-01592-5

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