OMIM/301050[Secondary Source ID] - Search Results

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Mutation of COL11A2 causes autosomal recessive non-syndromic hearing loss at the DFNB53 locus.

Chen W, Kahrizi K, Meyer NC, Riazalhosseini Y, Van Camp G, Najmabadi H, Smith RJ. Chen W, et al. J Med Genet. 2005 Oct;42(10):e61. doi: 10.1136/jmg.2005.032615. Epub 2005 Jul 20. J Med Genet. 2005. PMID: 16033917 Free PMC article.

Alport syndrome caused by inversion of a 21 Mb fragment of the long arm of the X-chromosome comprising exon 9 through 51 of the COL4A5 gene.

Hertz JM, Persson U, Juncker I, Segelmark M. Hertz JM, et al. Hum Genet. 2005 Oct;118(1):23-8. doi: 10.1007/s00439-005-0013-0. Epub 2005 Oct 28. Hum Genet. 2005. PMID: 16133187

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