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...

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Autors principals:	Zhimei Guo, Fang Liu, Hai Jun Li
Format:	Artigo
Idioma:	Inglês
Publicat:	BMC 2018-12-01
Col·lecció:	BMC Medical Genetics
Matèries:	Kabuki syndrome KDM6A Congenital hydrocephalus; splice-site mutation
Accés en línia:	http://link.springer.com/article/10.1186/s12881-018-0724-4
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