Objectives We aimed to investigate the genetic causes of hearing loss in a Chinese proband
with nonsyndromic hearing loss and enlarged vestibular aqueduct syndrome. Methods We …

Conclusions. The present study confirmed the clinical characteristics of patients with
SLC26A4 mutations: congenital, fluctuating, and progressive hearing loss usually …

Background Thirty thousand infants are born every year with congenital hearing impairment
in mainland China. Racial and regional factors are important in clinical diagnosis of genetic …

Hearing loss has been classically classified as conductive, when the defect is located in the
outer and/or middle ear, sensorineural, when the defect is located in the inner ear, or mixed …

INTRODUCTION: Mutations in PDS (or SLC26A4) cause both Pendred syndrome (PS) and
DFNB4, two autosomal recessive disorders that share hearing loss as a common feature. PS …

Conclusions: This study demonstrated high prevalence of GJB2, SLC26A4, and mtDNA
A1555G mutations in Chinese patients with nonsyndromic hearing loss and discovered …

Recessive mutations of PDS gene are the common causes of Pendred syndrome and non-
syndromic hearing loss associated with temporal bone abnormalities ranging from isolated …

Благодаря целенаправленному скринингу детского населения на нарушения слуха в
раз ных странах сегодня выявляют в среднем 1 случай глухоты на 650 новорожденных …

Mutations in the SLC26A4 gene, which encodes pendrin, cause congenital hearing loss as
a manifestation of Pendred syndrome (PS) with an iodide organification defect or …

Objective: To report magnetic resonance imaging findings in a patient with an SLC26A4
gene mutation who had low-frequency sensorineural hearing loss. Case report: A 13-year …