Pendred's syndrome

Although recessive mutations in the anion transporter gene SLC26A4 are known to be responsible for Pendred syndrome (PS) and… (More)

Following the positional cloning of PDS, the gene mutated in the deafness/goitre disorder Pendred syndrome (PS), numerous studies… (More)

Mutations in PDS (SLC26A4) cause both Pendred syndrome and DFNB4, two autosomal recessive disorders that share hearing loss as a… (More)

Pendred syndrome is an autosomal recessive disorder characterized by congenital deafness and thyroid goiter. The thyroid disease… (More)

Pendred syndrome is the most common form of syndromic deafness and characterized by congenital sensorineural hearing loss and… (More)

Pendred syndrome is an autosomal recessive disorder characterized by early childhood deafness and goiter. A century after its… (More)

Pendred syndrome is an autosomal recessive disorder characterized by the association between sensorineural hearing loss and… (More)

Pendred syndrome is a recessively inherited disorder with the hallmark features of congenital deafness and thyroid goitre. By… (More)

Inherited causes account for about 50% of Individuals presenting with childhood (prelingual) hearing loss, of which 70% are due… (More)

Exactly 100 years ago, in 1896, Pendred first described the association of congenital deafness with thyroid goitre (MIM#274600)1… (More)