1 results match your criteria: "Shanxi Provincial Children's Hospital (Shanxi Maternal and Child Health Care Hospital)[Affiliation]"
[Wiedemann-Steiner syndrome due to novel nonsense variant of KMT2A gene in a case].
Zhonghua Yi Xue Yi Chuan Xue Za Zhi
February 2021
Shanxi Provincial Children's Hospital (Shanxi Maternal and Child Health Care Hospital), Taiyuan, Shanxi 030013, China.
Objective: To explore the genetic basis for a child with unexplained global developmental delay (GDD), seizure, and facial deformity.
Methods: Whole exome sequencing (WES) was carried out for the patient. Candidate variants were verified by Sanger sequencing of the patient and his parents.