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Compound Heterozygosity for Two Novel SLC26A4 Mutations in a Large Iranian Pedigree with Pendred Syndrome

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

Azadegan-Dehkordi F, Bahrami T, Shirzad M, Karbasi G, Yazdanpanahi N, Farrokhi E, Koohiyan M, Tabatabaiefar MA, Hashemzadeh-Chaleshtori M

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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