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 gene or lack any detectable mutation.In this study, multiplex beaker creatures series 1 ligation-dependent probe amplification (MLPA) was used to screen for copy number variations (CNVs) of SLC26A4 and to reveal the pathogeni