Sensorineural hearing loss associated with enlargement of the vestibular aqueduct (EVA)
can be associated with mutations of the SLC26A4 gene. In western populations, less than …

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 …

Pendred syndrome (PDS) is an autosomal recessive disorder characterized by deafness
and goiter. Phenotypic heterogeneity is observed in affected individuals, and thyroid …

Pendred's syndrome is an autosomal recessive disorder characterized by sensorineural
deafness, goiter, and impaired iodide organification. It is caused by mutations in the …

Although the textbook view of Pendred syndrome is that of an autosomal recessive condition
characterized by deafness and goitre, it is increasingly clear that not all such patients …

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

Hearing impairments are the most common symptom of congenital defects, and they
generally remain intractable to treatment. Pendred syndrome, the most frequent syndromic …

Hearing loss (HL) is the most prevalent sensory defect affecting 1 in 500 neonates. Genetic
factors are involved in half of the cases. The extreme heterogeneity of HL makes it difficult to …

PURPOSE: The aim of this study was to analyze the clinical, audiological, radiological, and
genetic features of a group of patients affected with large vestibular aqueduct syndrome …

Hearing loss is the most common sensorial deficit in humans and one of the most common
birth defects. In developed countries, at least 60% of cases of hearing loss are of genetic …