Xq26.3-q27.1 duplication including SOX3 gene in a Chinese boy with hypopituitarism: case report and two years treatment follow up

• Main Authors: Caiqi Du (Author), Feiya Wang (Author), Zhuoguang Li (Author), Mini Zhang (Author), Xiao Yu (Author), Yan Liang (Author), Xiaoping Luo (Author)
• Format: Book
• Published: BMC, 2022-02-01T00:00:00Z.
• Subjects: article
• Online Access: Connect to this object online.

Abstract Background SOX3 is essential for pituitary development normally at the earliest stages of development. In humans, variants of SOX3 can cause X-linked hypopituitarism with various clinical manifestations, with or without mental retardation. Case presentation We present an 8-year-old Chinese...