https://scholars.lib.ntu.edu.tw/handle/123456789/630333
標題: | Clinical outcomes of fetuses with chromosome 16 short arm copy number variants | 作者: | Jessica KANG CHIEN-NAN LEE Su, Yi-Ning YI-YUN TAI CHIH-LING CHEN HAN-YING CHEN SHIN-YU LIN |
關鍵字: | chromosome 16; copy number variants; genetic counseling; prenatal diagnosis | 公開日期: | 4-四月-2023 | 出版社: | WILEY | 來源出版物: | Molecular genetics & genomic medicine | 摘要: | The short arm of chromosome 16 consists of several copy number variants (CNVs) that are crucial in neurodevelopmental disorders; however, incomplete penetrance and diverse phenotypes after birth aggravate the difficulty of prenatal genetic counseling. |
URI: | https://scholars.lib.ntu.edu.tw/handle/123456789/630333 | ISSN: | 2324-9269 | DOI: | 10.1002/mgg3.2174 |
顯示於: | 醫學系 |
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