Novel variants and phenotypic heterogeneity in a cohort of 11 Chinese children with Wiedemann-Steiner syndrome

Novel variants and phenotypic heterogeneity in a cohort of 11 Chinese children with Wiedemann-Steiner syndrome

Objective: Wiedemann-Steiner syndrome (WSS) is a rare autosomal dominant disorder caused by deleterious heterozygous variants of the KMT2A gene. This study aims to describe the phenotypic and genotypic features of Chinese WSS patients, and assess therapeutic effects of recombinant human growth hormo...

Full description

Bibliographic Details
Main Authors: Yunting Lin, Xiaohong Chen, Bobo Xie, Zhihong Guan, Xiaodan Chen, Xiuzhen Li, Peng Yi, Rong Du, Huifen Mei, Li Liu, Wen Zhang, Chunhua Zeng
Format: Article
Language:English
Published: Frontiers Media S.A. 2023-03-01
Series:Frontiers in Genetics
Subjects:
Wiedemann-Steiner syndrome
KMT2A gene
clinical characteristics
genetic spectrum
therapeutic effect
Chinese
Online Access:https://www.frontiersin.org/articles/10.3389/fgene.2023.1085210/full

Internet

https://www.frontiersin.org/articles/10.3389/fgene.2023.1085210/full

Similar Items