Genomic technology has completely changed the way in which we are able to diagnose
human genetic mutations. Genomic techniques such as the polymerase chain reaction …

Enlargement of the vestibular aqueduct (EVA) is a common inner ear malformation found in
children with sensorineural hearing loss that is frequently associated with loss-of-function or …

Objectives: Pendred syndrome, an autosomal recessive disorder, is often associated with
pathogenic variants of the SLC26A4 gene that encodes the pendrin protein. Given its …

Hearing loss is a well-known clinical sign in the context of pendrin malfunction. Pendred
syndrome (PS) and nonsyndromic hearing loss (DFNB4) with enlarged vestibular aqueduct …

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

Mutations of coding regions and splice sites of SLC26A4 cause Pendred syndrome and
nonsyndromic recessive hearing loss DFNB4. SLC26A4 encodes pendrin, a …

Mutations of SLC26A4 are a common cause of human hearing loss associated with
enlargement of the vestibular aqueduct. SLC26A4 encodes pendrin, an anion exchanger …

Mutations in the SLC26A4 gene can cause both Pendred syndrome and nonsyndromic
enlargement of the vestibular aqueduct, two conditions associated with sensorineural …

SLC26A4 gene mutations lead to Pendred syndrome and non-syndromic hearing loss
(DFNB4). The mouse model is well used to study the pathology of Pendred syndrome …

Enlarged vestibular aqueduct (EVA) is one of the most commonly identified inner ear
malformations in hearing loss patients including Pendred syndrome. While biallelic …