Case report
Open access
May 2026
Genetic analysis of childhood-onset dystonia-28 caused by a variant (c.5076G>A) in the KMT2B gene
The mutational spectrum of KMT2B is expands the mutational spectrum of KMT2B and provides additional evidence to support the genetic diagnosis and counseling of patients with KMT2B-related dystonia.
Wenlong Shen, Xiaopan Chen, Yajie Yuan et al.
· Global Medical Genetics · 0 citations