Report of Iranian Family with Pendred Syndrome with New Mutation T420I, and Multiply Heterozygous New Mutation T420I and 1197delT

• المؤلفون الرئيسيون: Hossein Najm-Abadi (مؤلف), Kimia Kahrizi (مؤلف), Marzieh Mohseni (مؤلف), Fatemeh Sadat Esteghamat (مؤلف), Sanaz Arzhangi (مؤلف), Richard Smith (مؤلف)
• التنسيق: كتاب
• منشور في: University of Social Welfare and Rehabilitation Sciences, 2005-01-01T00:00:00Z.
• الموضوعات: article
• الوصول للمادة أونلاين: Connect to this object online.

The incidence of profound congenital hearing loss is about 1 in 1,000 live birth. There are more than 50 distinct genetic loci (known as DFNB loci) at which mutations can cause recessive hearing loss. DFNB4, one recessive locus for deafness, also maps to 7q31 considerably for nonsyndromic hearing lo...