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

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 congenital clini...

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Detalles Bibliográficos
Autores principales: Guo, Zhimei, Liu, Fang, Li, Hai Jun
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2018
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6276138/
https://www.ncbi.nlm.nih.gov/pubmed/30509212
http://dx.doi.org/10.1186/s12881-018-0724-4

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