Article
Variability in Inner Ear Morphology Among a Family With Pendred Syndrome Due to a SLC26A4 Gene Variant.
The Annals of otology, rhinology, and laryngology - 1 Sept 2024
Chen Yung-Hsuan, Lin Wei-Che, Hwang Chung-Feng, Tsai Meng-Han, Yang Chao-Hui
Abstract excerpt
OBJECTIVES: Pendred syndrome, an autosomal recessive disorder, is often associated with pathogenic variants of the SLC26A4 gene that encodes the pendrin protein. Given its autosomal recessive inheritance, tracing the family history and screening siblings become crucial once a diagnosis of Pendred syndrome is confirmed. This case report aims to underscore the variability in inner ear morphology within a family...
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