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

• Main Authors: Liang Chen (Author), Zhi-ye Yao (Author), Xiangtao Wu (Author), Shao-ru He (Author), Yu-mei Liu (Author), Xue-yan Wang (Author), De-zhi Cao (Author), Xing-kun Yang (Author), Jian-bo Zhao (Author), Zi Ren (Author), Hong Li (Author), Zheng Pei (Author), Hong-ke Ding (Author), Zhi-chun Feng (Author)
• Format: Book
• Published: Frontiers Media S.A., 2022-08-01T00:00:00Z.
• Subjects: article
• Online Access: Connect to this object online.

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...