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

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...

Source: BMC Medical Genetics - February 27, 2018 Category: Genetics & Stem Cells Authors: Chengqi Xin, Chun Wang, Yachen Wang, Jingyuan Zhao, Liang Wang, Runjie Li and Jing Liu Tags: Case report Source Type: research