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Genetic Mapping and Pedigree Analysis of Non-syndromic Congenital Deafness in Surabaya, Indonesia

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Figshare2022-12-16 更新2026-04-28 收录
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https://figshare.com/articles/dataset/Genetic_Mapping_and_Pedigree_Analysis_of_Non-syndromic_Congenital_Deafness_in_Surabaya_Indonesia/21739010
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A total of 138 participants with non-syndromic hearing loss were enrolled in this study and 49 patients met the inclusion criteria. The subject’s average age was 16.16 years, with more male subjects than female. The hybridization results obtained six genetic mutations, one subject with mtDNA 1555, one subject with GJB2-299, two subjects with SLC26A4-IVS(7)2, and 3 subjects with unknown mutations. In pedigree analysis, the same genetic mutation was found in two generations of subjects with mtDNA 1555 and GJB2-299 mutations, and mutations of more than one genetic type were found in two generations of subjects with the SLC26A4-IVS(7)2 mutation
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2022-12-16
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