Pendred syndrome is an autosomal-recessive disorder characterized by congenital sensorineural hearing loss combined with goiter. This disorder may account for up to 10% of cases of hereditary deafness. The disease gene ( PDS/SLC26A4) has been mapped to chromosome 7q22-q31 and encodes a chloride-iodi
Identification ofSLC26A4gene mutations in Iranian families with hereditary hearing impairment
โ Scribed by Kimia Kahrizi; Marzieh Mohseni; Carla Nishimura; Niloofar Bazazzadegan; Stephanie M. Fischer; Atefeh Dehghani; Morteza Sayfati; Maryam Taghdiri; Payman Jamali; Richard J. H. Smith; Fereydoun Azizi; Hossein Najmabadi
- Publisher
- Springer
- Year
- 2008
- Tongue
- English
- Weight
- 77 KB
- Volume
- 168
- Category
- Article
- ISSN
- 0340-6997
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Pendred syndrome is an autosomal-recessive disorder characterized by congenital sensorineural hearing loss combined with goiter. This disorder may account for up to 10% of cases of hereditary deafness. The disease gene (PDS/SLC26A4) has been mapped to chromosome 7q22-q31 and encodes a chloride-iodid
## Communicated by Henrik Dahl Approximately 80% of hereditary hearing loss is non-syndromic. Non-syndromic deafness is the most genetically heterogeneous trait. The most common and severe form of hereditary hearing impairment is autosomal recessive non-syndromic hearing loss (ARNSHL), accounting f