Analysis of clinical phenotypes and genotypes of congenital deafness caused by rare variants in GJB2
ObjectiveThis study aims to analyze a genetic family with the GJB2 gene c.551G>A (p.R184Q) variant, exploring the relationship between its genotype and clinical phenotype, and summarizing the inheritance pattern and clinical features associated with this locus.MethodsDetailed medical history...
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| Main Authors: | , , , , , , |
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| Format: | Article |
| Language: | English |
| Published: |
Frontiers Media S.A.
2025-04-01
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| Series: | Frontiers in Pediatrics |
| Subjects: | |
| Online Access: | https://www.frontiersin.org/articles/10.3389/fped.2025.1514369/full |
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