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...
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| Autores principales: | , , |
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| Formato: | article |
| Lenguaje: | EN |
| Publicado: |
SpringerOpen
2021
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| Materias: | |
| Acceso en línea: | https://doaj.org/article/1eeb8231cc54408baae4b892a3718c38 |
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