https://scholars.lib.ntu.edu.tw/handle/123456789/633011
標題: | Utility of whole-exome sequencing for patients with multiple congenital anomalies with or without intellectual disability/developmental delay in East Asia population | 作者: | Hsu, Rai-Hseng Lee, Chen-Hao YIN-HSIU CHIEN Lin, Shuan-Pei Hung, Miao-Zi Chen, Nai-Chi Lin, Yi-Lin WUH-LIANG HWU NI-CHUNG LEE |
關鍵字: | chromosomal aberration; developmental delay; intellectual disability; multiple congenital anomalies; whole-exome sequencing | 公開日期: | 六月-2023 | 出版社: | WILEY | 卷: | 11 | 期: | 6 | 來源出版物: | Molecular genetics & genomic medicine | 摘要: | Congenital anomalies (CAs) with or without intellectual disability (ID)/developmental delay (DD) comprise a heterogeneous spectrum of diseases that affect approximately 3% of live births worldwide. Recently, whole-exome sequencing (WES) demonstrated the highly heterogeneous genetic causes of CAs. The purpose of this study was to evaluate a referral system to increase the yield of WES for CAs. |
URI: | https://scholars.lib.ntu.edu.tw/handle/123456789/633011 | ISSN: | 2324-9269 | DOI: | 10.1002/mgg3.2160 |
顯示於: | 醫學系 |
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