Article
A novel mutation of POU3F4 causes congenital profound sensorineural hearing loss in a large Chinese family.
The Laryngoscope - 1 Jun 2006
Wang Qiu-Ju, Li Qing-Zhong, Rao Shao-Qi, Zhao Ya-Li, Yuan Hu, Yang Wei-Yan, Han Dong-Yi, Shen Yan
Abstract excerpt
OBJECTIVES/HYPOTHESIS: It is known that approximately 5% of congenital profound hearing impaired cases are inherited in X-linked inheritance. This study aimed at identifying its underlying molecular determinant(s) using a large, five-generation Chinese family with multiple familial cases. STUDY DESIGN: Model-based linkage analysis and positional cloning. METHODS: Model-based genetic linkage analyses were...
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