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1997 | 1 |
2000 | 1 |
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Oto- spondylo-megaepiphyseal dysplasia (OSMED): clinical description of three patients homozygous for a missense mutation in the COL11A2 gene.
Am J Med Genet. 1997 Jun 13;70(3):315-23. doi: 10.1002/(sici)1096-8628(19970613)70:3<315::aid-ajmg19>3.3.co;2-y.
Am J Med Genet. 1997.
PMID: 9188673
Free article.
Autosomal recessive disorder otospondylomegaepiphyseal dysplasia is associated with loss-of-function mutations in the COL11A2 gene.
Melkoniemi M, Brunner HG, Manouvrier S, Hennekam R, Superti-Furga A, Kääriäinen H, Pauli RM, van Essen T, Warman ML, Bonaventure J, Miny P, Ala-Kokko L.
Melkoniemi M, et al.
Am J Hum Genet. 2000 Feb;66(2):368-77. doi: 10.1086/302750.
Am J Hum Genet. 2000.
PMID: 10677296
Free PMC article.
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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.
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