期刊
CLINICAL CASE REPORTS
卷 5, 期 11, 页码 1785-1788出版社
WILEY
DOI: 10.1002/ccr3.1184
关键词
GJB2; hearing loss
资金
- National Natural Science Foundation of China [81100716, 81400457, 81570928, 81602389]
- Development and Reform Commission of Hunan Province [31470948]
Key Clinical Message We report two heterozygous carriers of c.464A>G variation in the GJB2 gene in a Chinese pedigree. The proband with hearing loss most likely inherited the c.464A>G variation from his mother who also carries heterozygous c.79G>A variation and has normal hearing. The pathological significance of c.464A>G variation remains to be determined.
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