Phelan–McDermid Syndrome in Pediatric Patients With Novel Mutations: Genetic and Phenotypic Analyses

Phelan–McDermid Syndrome in Pediatric Patients With Novel Mutations: Genetic and Phenotypic Analyses

BackgroundPhelanrMcDermid syndrome (PMS) is an uncommon autosomal dominant inherited developmental disorder. The main characteristics are hypotonia, intellectual disability, autism spectrum disorder, autism-like behaviors and tiny facial deformities. Most cases are caused by the deletion of the 22q1...

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Bibliographic Details
Main Authors: Liang Chen, Zhi-ye Yao, Xiangtao Wu, Shao-ru He, Yu-mei Liu, Xue-yan Wang, De-zhi Cao, Xing-kun Yang, Jian-bo Zhao, Zi Ren, Hong Li, Zheng Pei, Hong-ke Ding, Zhi-chun Feng
Format: Article
Language:English
Published: Frontiers Media S.A. 2022-08-01
Series:Frontiers in Pediatrics
Subjects:
Phelan-McDermid syndrome
22q13 deletion
SHANK3
novel mutation
genetic
Online Access:https://www.frontiersin.org/articles/10.3389/fped.2022.888001/full

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https://www.frontiersin.org/articles/10.3389/fped.2022.888001/full

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