Article
[Analysis of NR2F1 gene variant in a child with optic atrophy and global developmental delay].
Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics - 10 Oct 2023
Tian Yang, Cai Jiahao, Li Xufang, Chen Lianfeng, Kang Ting, Chen Wenxiong
Abstract excerpt
OBJECTIVE: To explore the genetic basis for a child with optic atrophy and global developmental delay. METHODS: A child who had presented at the Guangzhou Women and Children's Medical Center in January 2022 was selected as the study subject. Clinical data were collected. Whole exome sequencing (WES) was carried out for the child. Candidate variant was validated by Sanger sequencing and bioinformatic analysis....
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