Article
Genetic characterization and screening of congenital adrenal hyperplasia by long-read sequencing in a cohort of 21,239 newborns.
Genome medicine - 30 Dec 2025
Liang Desheng, Zhu Min, Liang Qiaowei, Qiang Rong, Yu Lei, Xu Shiyi, Li Menglin, Song Jieping, Zhou Yulin, He Xiaoyan, Huang Yonglan, Jin Hua, Tan Jianqiang, Liu Hui, Xia Aihua, Liu Yingdi, Liu Peisen, Li Zhuo, Wang Ruifang, Wang Dongjuan, Zhang Ruixue, Pu Qian, Zhou Jinfu, Xu Runhong, Wang Xudong, Tan Minyi, Chen Dayu, Wu Chaoyan, Cui Di, Mao Aiping, Zhou Wenhao, Qiu Wenjuan, Wu Lingqian
Abstract excerpt
BACKGROUND: Comprehensive genetic characterization and screening for congenital adrenal hyperplasia (CAH) have not yet been achieved at the population level because of the complexity of the CYP21A2 locus. This prospective study incorporated long-read sequencing (LRS) into the current first-tier biochemical newborn screening (NBS) to comprehensively characterize the variant spectrum of CYP21A2, fully investigate...
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