Identification of novel KMT2D mutations in two Chinese children with Kabuki syndrome: a case report and systematic literature review

• Main Authors: Chengqi Xin (Author), Chun Wang (Author), Yachen Wang (Author), Jingyuan Zhao (Author), Liang Wang (Author), Runjie Li (Author), Jing Liu (Author)
• Format: Book
• Published: BMC, 2018-02-01T00:00:00Z.
• Subjects: article
• Online Access: Connect to this object online.

Abstract Background Kabuki syndrome (KS) is a rare pediatric congenital disorder with multiple congenital anomalies and intellectual disabilities, which is inherited in an autosomal dominant manner. Mutations in KMT2D and KDM6A have been proven to be the primary cause in most cases of KS. Case prese...