Article
[Genetic analysis of a boy with congenital variant Rett syndrome due to a novel variant of FOXG1 gene and literature review].
Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics - 10 May 2026
Li Xin, Qiang Rong, Wang Lin, Liu Yuan, Zhou Xiaoyan, Wang Rui
Abstract excerpt
OBJECTIVE: To explore the clinical manifestations and genetic etiology of a boy with congenital variant Rett syndrome (RTT). METHODS: A boy presented at the Medical Genetics Center of Northwest Women's and Children's Hospital in June 2023 due to "mental retardation" was selected as the study subject. Clinical data including history of birth, growth and development, and clinical manifestations were collected....
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