A novel deletion mutation in KMT2A identified in a child with ID/DD and blood eosinophilia

BACKGROUND: The KMT2A gene encoded lysine methyltransferase plays an essential role in regulating gene expression during early development and hematopoiesis. To date, 92 different mutations of KMT2A have been curated in the human gene mutation database (HGMD), resulting in Wiedemann-Steiner syndrome...

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Detalles Bibliográficos
Autores principales: Zhang, Haixia, Xiang, Bingwu, Chen, Hui, Chen, Xiang, Cai, Tao
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2019
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6402113/
https://www.ncbi.nlm.nih.gov/pubmed/30841869
http://dx.doi.org/10.1186/s12881-019-0776-0

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6402113/
https://www.ncbi.nlm.nih.gov/pubmed/30841869
http://dx.doi.org/10.1186/s12881-019-0776-0

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