Audiological findings of a patient with H syndrome: case report
Autor: | Diala Hussein, Büşra Altın, Münir Demir Bajin |
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Jazyk: | angličtina |
Rok vydání: | 2021 |
Předmět: | |
Zdroj: | The Egyptian Journal of Otolaryngology, Vol 37, Iss 1, Pp 1-7 (2021) |
Druh dokumentu: | article |
ISSN: | 1012-5574 2090-8539 |
DOI: | 10.1186/s43163-021-00185-8 |
Popis: | 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 |
Databáze: | Directory of Open Access Journals |
Externí odkaz: |