Report of a de novo c.2605C > T (p.Pro869Ser) change in the MED13L gene and review of the literature for MED13L-related intellectual disability

• 主要な著者: Zhi Yi (著者), Ying Zhang (著者), Zhenfeng Song (著者), Hong Pan (著者), Chengqing Yang (著者), Fei Li (著者), Jiao Xue (著者), Zhenghai Qu (著者)
• フォーマット: 図書
• 出版事項: BMC, 2020-07-01T00:00:00Z.
• 主題: article
• オンライン･アクセス: Connect to this object online.

Abstract Background MED13L-related intellectual disability is a new syndrome that is characterized by intellectual disability (ID), motor developmental delay, speech impairment, hypotonia and facial dysmorphism. Both the MED13L haploinsufficiency mutation and missense mutation were reported to be ca...