Audiological findings of a patient with H syndrome: case report

Autor: Diala Hussein, Büşra Altın, Münir Demir Bajin
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
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