Article
Mutation in PCDH15 may modify the phenotypic expression of the 7511T>C mutation in MT-TS1 in a Chinese Han family with maternally inherited nonsyndromic hearing loss.
International journal of pediatric otorhinolaryngology - 1 Oct 2015
Chen Dong-ye, Zhu Wei-dong, Chai Yong-chuan, Chen Ying, Sun Lianhua, Yang Tao, Wu Hao
Abstract excerpt
OBJECTIVES: Mutations in MT-TS1 have been found to be associated with nonsyndromic sensorineural hearing loss (SNHL). PCDH15 codes for protocadherin-15, a member of the cadherin superfamily of calcium-dependent cell-cell adhesion molecules. In this study, we analyzed the correlation of both MT-TS1 and PCDH15 mutations in a Chinese Han family segregating maternally inherited nonsyndromic SNHL. METHODS: We...
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