https://scholars.lib.ntu.edu.tw/handle/123456789/628634
Title: | Identification of nine novel variants across PAX3, SOX10, EDNRB, and MITF genes in Waardenburg syndrome with next-generation sequencing | Authors: | Lee, Chen-Yu Lo, Ming-Yu Chen, You-Mei PEI-HSUAN LIN Hsu, Chuan-Jen PEI-LUNG CHEN CHEN-CHI WU Jacob Shujui Hsu |
Keywords: | EDNRB; MITF; PAX3; SOX10; Waardenburg syndrome; next-generation sequencing | Issue Date: | Dec-2022 | Publisher: | WILEY | Journal Volume: | 10 | Journal Issue: | 12 | Source: | Molecular Genetics & Genomic Medicine | Abstract: | 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 |
Appears in Collections: | 基因體暨蛋白體醫學研究所 |
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