Latin America comprises all countries from South and Central America, in addition to
Mexico. It is characterized by a complex mosaic of regions with heterogeneous genetic …

Context Congenital hypothyroidism (CH) is due to dyshormonogenesis in 10% to 15% of
subjects worldwide but accounts for 60% of CH cases in the Sudan. Objective To investigate …

Introduction Enlarged vestibular aqueduct (EVA) is the commonest congenital anomaly
found with imaging techniques in paediatric sensorineural hearing loss (SNHL). Our aim …

Background Mutations in the SLC26A4 gene are associated with Pendred syndrome and
autosomal recessive non-syndromic deafness (DFNB4). Both disorders have similar …

Sequence alterations in the pendrin gene (SLC26A4) leading to functionally affected protein
variants are frequently involved in the pathogenesis of syndromic and nonsyndromic …

Pendred syndrome (PDS) is an autosomal recessive disorder characterized by congenital
deafness, goiter and iodide organification defect. Presence of inner ear malformations is …

Objectives/Hypothesis Enlarged vestibular aqueduct (EVA) and hearing loss are known to
be caused by SLC26A4 mutations, but large phenotypic variability exists among patients …

The overall aim of this study was to estimate the contribution of genetic factors to the etiology
of hearing loss (HL) in two counties in the Brazilian northeastern region. A cross-sectional …

Introducción El acueducto vestibular dilatado (AVD) es la anomalía congénita más
frecuentemente encontrada en técnicas de imagen en hipoacusia neurosensorial infantil …

Adaptor proteins are essential proteins involved in the regulation of signal transduction
pathways. XB130 is one type of adaptor proteins, which functions as an intracellular …