Patients with PS or non-syndromic deafness were submitted to genetic/functional analyzes
of SLC26A4, of its binding domain for FOXI1 (FOXI1-DBD), of the transcription activator …

Pendred syndrome (PS) is the most common cause of syndromic deafness, accounting for
more than 5% of all autosomal-recessive hearing loss cases. It is characterized by bilateral …

Mutations in SLC26A4 can cause deafness and goiter in Pendred syndrome (PDS) or
isolated non-syndromic enlargement of the vestibular aqueduct (NSEVA). PDS is one of the …

Pendred syndrome (PS) is an autosomal recessive disease that is characterized by
congenital sensorineural hearing loss, goiter, and a partial iodine organification defect. In …

Pendred syndrome is an autosomal recessive disorder characterized by the association
between sensorineural hearing loss and thyroid swelling or goitre and is likely to be the …

Background Pendred syndrome is a common autosomal recessive disorder causing
deafness. Features include sensorineural hearing impairment, goitre, enlarged vestibular …

Pendred syndrome is an autosomal recessive disorder traditionally defined by sensorineural
deafness, goiter, and a partial defect in the organification of iodide (OMIM 274600; …

Objective Pendred syndrome (PS) is characterized by the association of sensorineural
hearing loss (SNHL) and a partial iodide organification defect at the thyroid level. It is …

Pendred syndrome and the enlarged vestibular aqueduct (EVA) are considered phenotypic
variations of the same entity due to mutations in the SLC26A4 (pendrin) gene. Pendred …

Pendred syndrome (OMIM 274600) is an autosomal, recessive disorder defined by the triad
of congenital deafness, goiter, and positive perchlorate test. After the cloning of the Pendred …