Novel KDM6A splice-site mutation in kabuki syndrome with congenital hydrocephalus: a case report
Abstract Background 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)-specific methyltransferase 2D (KMT2D, formerly MLL2). Although the congenit...
Main Authors: | , , |
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Format: | Article |
Language: | English |
Published: |
BMC
2018-12-01
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Series: | BMC Medical Genetics |
Subjects: | |
Online Access: | http://link.springer.com/article/10.1186/s12881-018-0724-4 |