A case report of Phelan-McDermid syndrome: preliminary results of the treatment with growth hormone therapy

• Main Authors: Rui Jin Xie (Author), Tian Xiao Li (Author), Chenyu Sun (Author), Ce Cheng (Author), Jinlin Zhao (Author), Hua Xu (Author), Yueying Liu (Author)
• 格式: 图书
• 出版: BMC, 2021-03-01T00:00:00Z.
• 主题: article
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Abstract Background Phelan-McDermid syndrome (PMS), also known as 22q13.3 deletion syndrome, is a rare neurodevelopmental syndrome resulting from a deletion of the distal long arm of chromosome 22. Case presentation We report a case of a 21 months old Chinese girl presenting with global developmenta...