Novel KDM6A splice-site mutation in kabuki syndrome with congenital hydrocephalus: a case report

Kabuki syndrome (KS) is a rare congenital anomaly syndrome affecting multiple organs. Two genes have been shown to be mutated in patients with KS: lysine (K)-specific demethylase 6A (KDM6A) and lysine (K)-spec...

Source: BMC Medical Genetics - December 3, 2018 Category: Genetics & Stem Cells Authors: Zhimei Guo, Fang Liu and Hai Jun Li Tags: Case report Source Type: research