Kabuki syndrome: a Chinese case series and systematic review of the spectrum of mutations

BACKGROUND: Kabuki syndrome is a rare hereditary disease affecting multiple organs. The causative genes identified to date are KMT2D and KDMA6. The aim of this study is to evaluate the clinical manifestations and the spectrum of mutations of KMT2D. METHODS: We retrospectively retrieved a series of e...

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Detalles Bibliográficos
Autores principales: Liu, Shuang, Hong, Xiafei, Shen, Cheng, Shi, Quan, Wang, Jian, Xiong, Feng, Qiu, Zhengqing
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2015
Materias:
Research Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4630853/
https://www.ncbi.nlm.nih.gov/pubmed/25896430
http://dx.doi.org/10.1186/s12881-015-0171-4

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