Autosomal Recessive Non-Syndromic Hearing Loss: A Case Report with a Novel TRIOBP Gene Variant
In the present case report, we have found a novel variant for TRIOBP in a patient with congenital hearing loss. The patient is an 8-year-old female with hearing loss, the first child of consanguineous parents. To identify the underlying genetic defect, whole genome sequencing was performed. Carrier...
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| Main Authors: | , , , , , |
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| Format: | Article |
| Language: | English |
| Published: |
Tehran University of Medical Sciences
2024-12-01
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| Series: | Case Reports in Clinical Practice |
| Subjects: | |
| Online Access: | https://crcp.tums.ac.ir/index.php/crcp/article/view/979 |
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