Case Report: A Novel KMT2E Splice Site Variant as a Cause of O'Donnell-Luria-Rodan Syndrome in a Male Patient

• Main Authors: Zixuan Cao (Author), Chunli Wang (Author), Jing Chen (Author), Hu Guo (Author), Chunfeng Wu (Author), Gang Zhang (Author), Le Ding (Author)
• Format: Book
• Published: Frontiers Media S.A., 2022-02-01T00:00:00Z.
• Subjects: article
• Online Access: Connect to this object online.

BackgroundO'Donnell-Luria-Rodan (ODLURO) syndrome is an autosomal dominant systemic disorder characterized by global developmental delay caused by mutations in the KMT2E gene. The aim of this study was to investigate the role of KMT2E mutations as a cause of ODLURO syndrome in a Chinese boy.Met...