Oligogenic effect is associated with the clinical heterogeneity of autosomal dominant deafness-15

Oligogenic effect is associated with the clinical heterogeneity of autosomal dominant deafness-15

Abstract Autosomal dominant deafness-15 which is caused by mutation in the POU4F3 gene, has been reported with a wide degree of clinical heterogeneity, even between intrafamilial members. However, the reason is still elusive. In this study, A four-generation Chinese family with 11 patients manifesti...

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Bibliographic Details
Main Authors: Jianyan Pan, Hua Teng, Fang Liu, Siyi Chen, Yaning Liu, Yanling Teng, Desheng Liang, Zhuo Li, Lingqian Wu
Format: Article
Language:English
Published: Nature Portfolio 2025-01-01
Series:Scientific Reports
Subjects:
Autosomal dominant deafness
POU4F3
Novel mutation
Oligogenic effect
Clinical heterogeneity
Online Access:https://doi.org/10.1038/s41598-025-85881-8
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