SLC26A4 gene copy number variations in Chinese patients with non-syndromic enlarged vestibular aqueduct
Abstract Background Many patients with enlarged vestibular aqueduct (EVA) have either only one allelic mutant of the SLC26A4 Canine - Clothing - Sweater gene or lack any detectable mutation.In this study, multiplex ligation-dependent probe amplification (MLPA) was used to screen for copy number variations (CNVs) of SLC26A4 and to reveal the pathoge