Genetic insights, disease mechanisms, and biological therapeutics for Waardenburg syndrome
Abstract
Waardenburg syndrome (WS), also known as auditory-pigmentary syndrome, is the most common cause of syndromic hearing loss (HL), which accounts for approximately 2-5% of all patients with congenital hearing loss. WS is classified into four subtypes depending on the clinical phenotypes. Currently, pathogenic mutations of PAX3, MITF, SOX10, EDN3, EDNRB or SNAI2 are associated with different subtypes of WS. Although supportive techniques like...
Paper Details
Title
Genetic insights, disease mechanisms, and biological therapeutics for Waardenburg syndrome
Published Date
Feb 25, 2021
Journal
Volume
29
Issue
9
Pages
479 - 497
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