Article
[Clinical and genetic analysis of two rare male patients with Rett syndrome].
Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics - 10 May 2022
Zheng Xuan, Liu Lei, Wang Yanhong, Wang Yali, Wang Huiying, Du Yuhui, Gao Liujiong, Zhang Yaodong, Mei Shiyue
Abstract excerpt
OBJECTIVE: To conduct clinical and genetic analysis of two male patients with atypical Rett syndrome. METHODS: Collection of clinical data in the two patients and these parents; whole exome sequencing (WES) was used to detect the potential variants, which were verified by Sanger sequencing. X chromosome inactivation (XCI) detection is performed in the Patient 1's mother to detect the allelic expression difference...
Topics
- Craniosynostoses
- Female
- Genetic Testing
- Humans
- Intellectual Disability
- Male
- Methyl-CpG-Binding Protein 2
- Mutation
- Phenotype
- Rett Syndrome