MedicineAdultHumansMaleDeafnessFrameshift Mutation
Identification and phased de novo mutation of the EPS8L2 gene in a patient with progressive hearing loss: A case report.
Hanxiao Gan, Yu Lu, Shenhong Qu, Lianli Lu, Huilan Xu, Mingyin Fan, Jie Tang, Jinying Mo, Ruichun Chen, Fengzhu Tang
Published: 202610.1097/MD.0000000000046930
Abstract
Pathogenic variants in the EPS8L2 gene are known to underlie nonsyndromic progressive hearing loss. In this study, we enrolled a 39-year-old male patient with deafness. We collected detailed clinical characteristics and results of auxiliary examinati…
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