Citations for
1DFNA53, DFNB5, DFNA23, DFNB35, DFNA9
A novel locus for autosomal dominant non-syndromic deafness, DFNA53, maps to chromosome 14q11.2-q12.
Yan D, Ke X, Blanton SH, Ouyang XM, Pandya A, Du LL, Nance WE, Liu XZ.
J Med Genet 43(2):170-4. Epub 2005 Jun 15. 2006
2BOR3, BOS3, DFNA23, EYA1, SIX1
SIX1 mutations cause branchio-oto-renal syndrome by disruption of EYA1-SIX1-DNA complexes.
Ruf RG, Xu PX, Silvius D, Otto EA, Beekmann F, Muerb UT, Kumar S, Neuhaus TJ, Kemper MJ, Raymond RM Jr, Brophy PD, Berkman J, Gattas M, Hyland V, Ruf EM, Schwartz C, Chang EH, Smith RJ, Stratakis CA, Weil D, Petit C, Hildebrandt F.
Proc Natl Acad Sci U S A 101(21):8090-5. Epub 2004 May 12. 2004
3DFNA23, IDDM11, MCOP1, MNG1, NP, SPTB
Current status of human chromosome 14.
Kamnasaran D, Cox DW.
J Med Genet 39(2):81-90. Review. 2002
4DFNA23
A Novel Locus (DFNA23) for Prelingual Autosomal Dominant Nonsyndromic Hearing Loss Maps to 14q21-q22 in a Swiss German Kindred.
Salam AA, Hafner FM, Linder TE, Spillmann T, Schinzel AA, Leal SM.
Am J Hum Genet 66(6):1984-1988. 2000