SLC26A4 mutations cause fluctuating and progressive hearing loss associated with
enlargement of the vestibular aqueduct (EVA). SLC26A4 encodes a transmembrane anion …

Pendred syndrome is an autosomal recessive disorder characterized by sensorineural
hearing loss, goiter, and a partial defect in iodide organification, and is the most common …

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 …

Enlarged vestibular aqueduct is an autosomal genetic disease mainly caused by mutations
in the SLC26A4 gene and includes non-syndromic and syndromic types. This study aimed to …

Pendred syndrome (PDS) is the most common form of syndromic Hearing Loss (HL),
characterized by sensorineural HL, inner ear malformations, and goiter, with or without …

Pendred syndrome is an autosomal recessive disorder characterized by early childhood
deafness and goiter. A century after its recognition as a syndrome by Vaughan Pendred, the …

SLC26A4 encodes pendrin, a transporter exchanging anions such as chloride, bicarbonate,
and iodide. Loss of function mutations of SLC26A4 cause Pendred syndrome characterized …

Pendred's syndrome is an autosomal-recessive disorder characterized by deafness and
goiter. After our recent identification of the human gene mutated in Pendred's syndrome …

Mutations in the human SLC26A4/Pendrin polypeptide (hPDS) cause Pendred
Syndrome/DFNB4, syndromic deafness with enlargement of the vestibular aqueduct and low …

Objectives To investigate the genetic causes of hearing loss with enlarged vestibular
aqueduct (EVA) in two children from unrelated two Chinese families. Methods Sanger …