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Novel KDM6A mutation in a Chinese infant with Kabuki syndrome: A case report

BACKGROUND: Kabuki syndrome (KS) is a rare syndrome characterized by multisystem congenital anomalies and developmental disorder. KMT2D and KDM6A mutations were identified as the main causative genes in KS patients. There are few case reports and genetic analyses, especially of KDM6A gene mutation,...

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Detalles Bibliográficos
Autores principales:	Guo, Hong-Xian, Li, Bao-Wei, Hu, Mei, Si, Shao-Yan, Feng, Kai
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	Baishideng Publishing Group Inc 2021
Materias:	Case Report
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8638061/ https://www.ncbi.nlm.nih.gov/pubmed/34904097 http://dx.doi.org/10.12998/wjcc.v9.i33.10257

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