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Identification of eight novel variants across PAX3, SOX10, EDNRB and MITF genes in Waardenburg syndrome with next-generation sequencing
2022-01-27
otolaryngology
Title + abstract only
View on medRxiv
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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. A total of 24 patients from 21 Han Taiwanese families were enrolled and underwent comprehensive physical and audiological examination. We applied targeted next-generation se...
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