Segregation of a new mutation in SLC26A4 and p.E47X mutation in GJB2 within a consanguineous Tunisian family affected with Pendred syndrome
β Scribed by Mariem Ben Said; Houria Dhouib; Zeineb BenZina; AbdelMoneem Ghorbel; Felipe Moreno; Saber Masmoudi; Hammadi Ayadi; Mounira Hmani-Aifa
- Book ID
- 116566302
- Publisher
- Elsevier Science
- Year
- 2012
- Tongue
- English
- Weight
- 624 KB
- Volume
- 76
- Category
- Article
- ISSN
- 0165-5876
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Pendred syndrome (PDS; OMIM #274600) is an autosomal recessive disorder characterized by bilateral sensorineural hearing loss with inner ear malformations and goiter, although the thyroid symptoms are variable [Reardon et al., 1999]. PDS is estimated to account for 5% of childhood deafness, rising t
## 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