De novo truncating variant in NSD2gene leading to atypical Wolf-Hirschhorn syndrome phenotype

De novo truncating variant in NSD2gene leading to atypical Wolf-Hirschhorn syndrome phenotype

Abstract Background Wolf-Hirschhorn syndrome (WHS) is a contiguous gene syndrome caused by partial 4p deletion highly variable in size in individual patients. The core WHS phenotype is defined by the association of growth delay, typical facial characteristics, intellectual disability and seizures. T...

Full description

Bibliographic Details
Main Authors: Yanrui Jiang, Huizhen Sun, Qingmin Lin, Zengge Wang, Guanghai Wang, Jian Wang, Fan Jiang, Ruen Yao
Format: Article
Language:English
Published: BMC 2019-08-01
Series:BMC Medical Genetics
Subjects:
Wolf-Hirschhorn syndrome
NSD2 gene
Truncating variants
Online Access:http://link.springer.com/article/10.1186/s12881-019-0863-2

Internet

http://link.springer.com/article/10.1186/s12881-019-0863-2

Similar Items