Diagnosis of a patient with severe sensorineural hearing loss as the initial symptom caused by novel compound heterozygous variant in SLC19A2 gene
Objective: Thiamine-Responsive Megaloblastic Anemia (TRMA) syndrome, caused by biallelic variants in the SLC19A2 gene, typically presents with a triad of megaloblastic anemia, diabetes mellitus, and sensorineural hearing loss. This study aims to determine the genetic etiology and clinical phenotype...
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| Main Authors: | , , , , , , |
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| Format: | Article |
| Language: | English |
| Published: |
Elsevier
2025-07-01
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| Series: | Brazilian Journal of Otorhinolaryngology |
| Subjects: | |
| Online Access: | http://www.sciencedirect.com/science/article/pii/S1808869425000242 |
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