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

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 encompassing man...

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Detalles Bibliográficos
Autores principales: Xu, Na, Lv, Hui, Yang, Tingting, Du, Xiujuan, Sun, Yu, Xiao, Bing, Fan, Yanjie, Luo, Xiaomei, Zhan, Yongkun, Wang, Lili, Li, Fei, Yu, Yongguo
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2020
Materias:
Research
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7708101/
https://www.ncbi.nlm.nih.gov/pubmed/33256793
http://dx.doi.org/10.1186/s13023-020-01592-5

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