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  5. High De Novo Rate of Dominant GJB2 Mutations in Chinese Han patients with Hearing Impairment and Pal

High De Novo Rate of Dominant GJB2 Mutations in Chinese Han patients with Hearing Impairment and Pal

来源 :The 4th East Asian Symposium on Otology(第四届东亚耳科研讨会) | 被引量 : 0次 | 上传用户：nannana001
【摘 要】
：
Objective: Dominant mutations in GJB2 may lead to various degrees of sensorineural hearing impairment and/or hyperproliferative skin disorders.The aim of this study was to characterize the spectrum, o
【作 者】
：
Xiuhong Pang Hao Wu Tao Yang 
【机 构】
：
Department of Otorhinolaryngology-Head and Neck Surgery, Xinhua Hospital, Shanghai Jiaotong Universi
【出 处】
：
The 4th East Asian Symposium on Otology(第四届东亚耳科研讨会)
【发表日期】
：
2014年8期
【关键词】
：
hearing impairment palmoplantar keratoderma GJB2 de novo mutation phenotype modi 
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Objective: Dominant mutations in GJB2 may lead to various degrees of sensorineural hearing impairment and/or hyperproliferative skin disorders.The aim of this study was to characterize the spectrum, origin and genotype-phenotype correlation of dominant GJB2 mutations in Chinese Han patients with syndromic or non-syndromic hearing impairment.
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