1 | DFNA10, DFNA12, DFNA13, DFNA44, DFNA8
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| Research progress in pathogenic genes of hereditary non-syndromic mid-frequency deafness.
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| Xia W, Liu F, Ma D.
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| Front Med 10(2):137-42. doi: 10.1007/s11684-016-0449-8. Epub 2016 May 3. Review.
2016
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2 | COL11A2, DFNB53, WZS, OSMED, DFNA13
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| A type II collagen mutation also results in oto-spondylo-megaepiphyseal dysplasia.
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| Miyamoto Y, Nakashima E, Hiraoka H, Ohashi H, Ikegawa S.
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| Hum Genet 118(2):175-8. Epub 2005 Nov 15. 2005
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3 | COL11A2, DFNA13
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| Autosomal dominant inherited hearing impairment caused by a missense mutation in COL11A2 (DFNA13).
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| De Leenheer EM, Kunst HH, McGuirt WT, Prasad SD, Brown MR, Huygen PL, Smith RJ, Cremers CW.
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| Arch Otolaryngol Head Neck Surg 127(1):13-7. 2001
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4 | DFN2, DFNA10, DFNA13, DFNA18, DFNA2, DFNA4, DFNA5, DFNA6, DFNB12, DFNB13, DFNB15, DFNB16, DFNB17, DFNB19, DFNB6, DFNB7, DFNB8, USH1D, USH1E, USH1F, CLRN1
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| Human cochlear expressed sequence tags provide insight into cochlear gene expression and identify candidate genes for deafness.
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| Skvorak AB, et al.
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| Hum Mol Genet 8(3):439-52 1999
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5 | COL11A2, DFNA13
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| Mutations in COL11A2 cause non-syndromic hearing loss (DFNA13).
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| McGuirt WT, Prasad SD, Griffith AJ, Kunst HP, Green GE, Shpargel KB, Runge C, Huybrechts C, Mueller RF, Lynch E, King MC, Brunner HG, Cremers CW, Takanosu M, Li SW, Arita M, Mayne R, Prockop DJ, Van Camp G, Smith RJ.
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| Nat Genet 23(4):413-9 1999
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6 | DFNA8, DFNA13
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| Nonsyndromic hearing impairment : unparalled hetorogeneity.
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| Van Camp G, et al.
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| Am J Hum Genet 60 : 758-764. 1997
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7 | DFNA13
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| A novel locus for autosomal dominant nonsyndromic hearing loss, DFNA13, maps to chromosome 6p.
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| Brown MR, Tomek MS, Van Laer L, Smith S, Kenyon JB, Van Camp G, Smith RJ.
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| Am J Hum Genet 61(4):924-7. 1997
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