Identification of nine novel variants across PAX3, SOX10, EDNRB, and MITF genes in Waardenburg syndrome with next-generation sequencing

Lee, Chen-YuChen-YuLeeLo, Ming-YuMing-YuLoChen, You-MeiYou-MeiChenPEI-HSUAN LINHsu, Chuan-JenChuan-JenHsuPEI-LUNG CHENCHEN-CHI WUJacob Shujui Hsu2023-02-212023-02-212022-122324-9269https://scholars.lib.ntu.edu.tw/handle/123456789/628634Waardenburg 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.enEDNRB; MITF; PAX3; SOX10; Waardenburg syndrome; next-generation sequencingIdentification of nine novel variants across PAX3, SOX10, EDNRB, and MITF genes in Waardenburg syndrome with next-generation sequencingjournal article10.1002/mgg3.2082363311482-s2.0-85141350302WOS:000878677500001https://api.elsevier.com/content/abstract/scopus_id/85141350302https://www.scopus.com/inward/record.uri?eid=2-s2.0-85141350302&doi=10.1002%2fmgg3.2082&partnerID=40&md5=9ed0a88aee1462bf51e0d3f98bcbb48c