- Compound Heterozygosity for Two Novel SLC26A4 Mutations in a Large Iranian Pedigree with Pendred Syndrome
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Yazdanpanahi N, Tabatabaiefar MA, Farrokhi E, Abdian N, Bagheri N, Shahbazi S, Noormohammadi Z, Chaleshtori MH
- KMID: 2278426
- Clin Exp Otorhinolaryngol.
- 2013 Dec;6(4):201-208.
OBJECTIVES: The aim of this study was to detect the genetic cause of deafness in a large Iranian family. Due to the importance of SLC26A4 in causing hearing loss, information... -
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- Mutations in GJB2 as Major Causes of Autosomal Recessive Non-Syndromic Hearing Loss: First Report of c.299-300delAT Mutation in Kurdish Population of Iran
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Azadegan-Dehkordi F, Bahrami T, Shirzad M, Karbasi G, Yazdanpanahi N, Farrokhi E, Koohiyan M, Tabatabaiefar MA, Hashemzadeh-Chaleshtori M
- KMID: 2438178
- J Audiol Otol.
- 2019 Jan;23(1):20-26.
- doi: 10.7874/jao.2018.00185
BACKGROUND AND OBJECTIVES: Autosomal recessive non-syndromic hearing loss (ARNSHL) with genetic origin is common (1/2000 births). ARNSHL can be associated with mutations in gap junction protein beta 2 (GJB2). To... -
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