A missense mutation in the mouse Col2a1 gene causes spondyloepiphyseal dysplasia congenita, hearing loss, and retinoschisis.
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J Bone Miner Res. 2003 Sep;18(9):1612-21. doi: 10.1359/jbmr.2003.18.9.1612.
J Bone Miner Res. 2003.
PMID: 12968670
Free PMC article.