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Research ArticleOriginal Article
Open Access

A novel missense mutation in the C2C domain of otoferlin causes profound hearing impairment in an Omani family with auditory neuropathy

Nadia M. Al-Wardy, Mohammed N. Al-Kindi, Mazin J. Al-Khabouri, Yahya Tamimi and Guy van Camp
Saudi Medical Journal October 2016, 37 (10) 1068-1075; DOI: https://doi.org/10.15537/smj.2016.10.14967
Nadia M. Al-Wardy
From the Department of Biochemistry (Al-Wardy, Al-Kindi, Tamimi), College of Medicine & Health Sciences, Sultan Qaboos University, Al-Khoud, the Department of Otolaryngology and Head and Neck Surgery (Al-Khabouri), Al Nahda Hospital, Ministry of Health, Muscat, Oman, Al-Khoud, Sultanate of Oman, and the Centre of Medical Genetics (van Camp), University of Antwerp, Antwerpen, Belgium
PhD
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  • For correspondence: [email protected]
Mohammed N. Al-Kindi
From the Department of Biochemistry (Al-Wardy, Al-Kindi, Tamimi), College of Medicine & Health Sciences, Sultan Qaboos University, Al-Khoud, the Department of Otolaryngology and Head and Neck Surgery (Al-Khabouri), Al Nahda Hospital, Ministry of Health, Muscat, Oman, Al-Khoud, Sultanate of Oman, and the Centre of Medical Genetics (van Camp), University of Antwerp, Antwerpen, Belgium
MSc
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Mazin J. Al-Khabouri
From the Department of Biochemistry (Al-Wardy, Al-Kindi, Tamimi), College of Medicine & Health Sciences, Sultan Qaboos University, Al-Khoud, the Department of Otolaryngology and Head and Neck Surgery (Al-Khabouri), Al Nahda Hospital, Ministry of Health, Muscat, Oman, Al-Khoud, Sultanate of Oman, and the Centre of Medical Genetics (van Camp), University of Antwerp, Antwerpen, Belgium
FRCS, PhD
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Yahya Tamimi
From the Department of Biochemistry (Al-Wardy, Al-Kindi, Tamimi), College of Medicine & Health Sciences, Sultan Qaboos University, Al-Khoud, the Department of Otolaryngology and Head and Neck Surgery (Al-Khabouri), Al Nahda Hospital, Ministry of Health, Muscat, Oman, Al-Khoud, Sultanate of Oman, and the Centre of Medical Genetics (van Camp), University of Antwerp, Antwerpen, Belgium
PhD
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Guy van Camp
From the Department of Biochemistry (Al-Wardy, Al-Kindi, Tamimi), College of Medicine & Health Sciences, Sultan Qaboos University, Al-Khoud, the Department of Otolaryngology and Head and Neck Surgery (Al-Khabouri), Al Nahda Hospital, Ministry of Health, Muscat, Oman, Al-Khoud, Sultanate of Oman, and the Centre of Medical Genetics (van Camp), University of Antwerp, Antwerpen, Belgium
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A novel missense mutation in the C2C domain of otoferlin causes profound hearing impairment in an Omani family with auditory neuropathy
Nadia M. Al-Wardy, Mohammed N. Al-Kindi, Mazin J. Al-Khabouri, Yahya Tamimi, Guy van Camp
Saudi Medical Journal Oct 2016, 37 (10) 1068-1075; DOI: 10.15537/smj.2016.10.14967

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A novel missense mutation in the C2C domain of otoferlin causes profound hearing impairment in an Omani family with auditory neuropathy
Nadia M. Al-Wardy, Mohammed N. Al-Kindi, Mazin J. Al-Khabouri, Yahya Tamimi, Guy van Camp
Saudi Medical Journal Oct 2016, 37 (10) 1068-1075; DOI: 10.15537/smj.2016.10.14967
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