https://scholars.lib.ntu.edu.tw/handle/123456789/628634
標題: | Identification of nine novel variants across PAX3, SOX10, EDNRB, and MITF genes in Waardenburg syndrome with next-generation sequencing | 作者: | Lee, Chen-Yu Lo, Ming-Yu Chen, You-Mei PEI-HSUAN LIN Hsu, Chuan-Jen PEI-LUNG CHEN CHEN-CHI WU Jacob Shujui Hsu |
關鍵字: | EDNRB; MITF; PAX3; SOX10; Waardenburg syndrome; next-generation sequencing | 公開日期: | 十二月-2022 | 出版社: | WILEY | 卷: | 10 | 期: | 12 | 來源出版物: | Molecular Genetics & Genomic Medicine | 摘要: | Waardenburg syndrome (WS) is a hereditary, genetically heterogeneous disorder characterized by variable presentations of sensorineural hearing impairment and pigmentation anomalies. This study aimed to investigate the clinical features of WS in detail and determine the genetic causes of patients with clinically suspected WS. |
URI: | https://scholars.lib.ntu.edu.tw/handle/123456789/628634 | ISSN: | 2324-9269 | DOI: | 10.1002/mgg3.2082 |
顯示於: | 基因體暨蛋白體醫學研究所 |
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