Audiological findings of a patient with H syndrome: case report
Abstract Background H syndrome is an autosomal recessive disorder caused by mutations in SLC29A3. Hyperpigmentation, hypertrichosis, hyperglycemia, and hearing loss are some characteristics of this disorder, and it has a prevalence of < 1/1000. The aim of this report is to spread awareness among...
| Main Authors: | , , |
|---|---|
| Format: | Article |
| Language: | English |
| Published: |
SpringerOpen
2021-12-01
|
| Series: | The Egyptian Journal of Otolaryngology |
| Subjects: | |
| Online Access: | https://doi.org/10.1186/s43163-021-00185-8 |