Background Mutations in SLC26A4, which encodes pendrin, are a common cause of
deafness. SLC26A4 mutations are responsible for Pendred syndrome and non-syndromic …

Recessive mutations in SLC26A4 and in rarer cases double heterozygous mutations of
FOXI1/SLC26A4 and KCNJ10/SLC26A4 lead to hearing impairment associated with …

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 …

It has been shown that mutations in the SLC26A4 gene are involved in syndromic deafness
characterized by congenital sensorineural hearing impairment and goitre (Pendred's …

Mutations in SLC26A4 cause a broad phenotypic spectrum, from typical Pendred syndrome
to nonsyndromic hearing loss associated with enlarged vestibular aqueduct. Identification of …

Context: Enlargement of the vestibular aqueduct (EVA) is a commonly detected inner ear
anomaly related to hearing loss and often associated with mutations of SLC26A4 encoding …

Mutation of SLC26A4 is the most common cause of prelingual hearing loss in East Asia.
Patients with SLC26A4 mutations have variable phenotypes ranging from non‐syndromic …

OBJECTIVE: We have characterized the spectrum of SLC26A4 mutations and clinical
features in a population of mainland Chinese patients with nonsyndromic sensorineural …

Pendred syndrome (PS) and non-syndromic enlarged vestibular aqueduct (EVA) are two
recessive disorders characterized by the association of sensorineural hearing loss (SNHL) …

Hearing loss with enlargement of the vestibular aqueduct (EVA) can be associated with
mutations of the SLC26A4 gene encoding pendrin, a transmembrane Cl−/I−/HCO …