Case Report: De novo Variants of KMT2E Cause O'Donnell-Luria-Rodan Syndrome: Additional Cases and Literature Review

• Main Authors: Yang Li (Author), Lijuan Fan (Author), Rong Luo (Author), Zuozhen Yang (Author), Meng Yuan (Author), Jinxiu Zhang (Author), Jing Gan (Author)
• 格式: 圖書
• 出版: Frontiers Media S.A., 2021-02-01T00:00:00Z.
• 主題: article
• 在線閱讀: Connect to this object online.

Introduction: O'Donnell-Luria-Rodan syndrome was recently identified as an autosomal dominant systemic disorder caused by variants in KMT2E. It is characterized by global developmental delay, some patients also exhibit autism, seizures, hypotonia, and/or feeding difficulties.Methods: Whole-exom...