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

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

Abstract 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...

Full description

Bibliographic Details
Main Authors: Haixia Zhang, Bingwu Xiang, Hui Chen, Xiang Chen, Tao Cai
Format: Article
Language:English
Published: BMC 2019-03-01
Series:BMC Medical Genetics
Subjects:
KMT2A mutation
Intellectual disability
Eosinophilia
Whole exome sequencing
Case report
Online Access:http://link.springer.com/article/10.1186/s12881-019-0776-0

Internet

http://link.springer.com/article/10.1186/s12881-019-0776-0

Similar Items