Article
Clinical features and underlying genetic causes in neonatal encephalopathy: A large cohort study.
Clinical genetics - 1 Oct 2020
Yang Lin, Chen Xiang, Liu Xu, Dong Xinran, Ye Chang, Deng Dongli, Lu Yulan, Lin Yifeng, Zhou Wenhao
Abstract excerpt
This study aimed to investigate the potential genetic causes of neonatal encephalopathy (NE) in a large cohort of Chinese patients. We included 366 neonates with encephalopathy. Whole exome sequencing was performed to assess the potential molecular defects. In this study, 43 patients (11.7%) were identified with pathogenic or likely pathogenic variants and 10 patients (2.7%) carried variants with unknown...
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