Article
Pendred syndrome is caused by mutations in a putative sulphate transporter gene (PDS).
Nature genetics - 1 Dec 1997
Everett L A, Glaser B, Beck J C, Idol J R, Buchs A, Heyman M, Adawi F, Hazani E, Nassir E, Baxevanis A D, Sheffield V C, Green E D
Abstract excerpt
Pendred syndrome is a recessively inherited disorder with the hallmark features of congenital deafness and thyroid goitre. By some estimates, the disorder may account for upwards of 10% of hereditary deafness. Previous genetic linkage studies localized the gene to a broad interval on human chromo...
Topics
- Amino Acid Sequence
- Animals
- Biological Transport
- Carrier Proteins
- Chromosome Mapping
- Cloning, Molecular
- Hearing Loss, Sensorineural
- Humans
- Membrane Transport Proteins
- Mice
- Molecular Sequence Data
- Mutation
- Pedigree
- Rats
- Sequence Alignment