Autosomal Recessive Non-Syndromic Hearing Loss: A Case Report with a Novel TRIOBP Gene Variant

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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Bibliographic Details
Main Authors: Shweta Jangam, Manju Kurup, Preeti Arora, Shruti Jawale, Prashant Duraphe, Sanjay Gupte
Format: Article
Language:English
Published: Tehran University of Medical Sciences 2024-12-01
Series:Case Reports in Clinical Practice
Subjects:
TRIOBP gene
Congenital hearing loss
Whole genome sequencing
Online Access:https://crcp.tums.ac.ir/index.php/crcp/article/view/979
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