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Objective
To investigate the relations of monoallelic (M1), biallelic (M2), or the absence of mutations (M0) in SLC26A4 to inner ear morphology and hearing levels in individuals with Pendred syndrome (PS) or nonsyndromic enlarged vestibular aqueduct (NSEVA) associated with hearing loss.
Methods
In a cohort of 139 PS/NSEVA individuals, 115 persons from 95 unrelated families had full genetic sequencing...