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Dual diagnosis of osteogenesis imperfecta (OI) and short stature and advanced bone age with or without early-onset osteoarthritis and/or osteochondritis dissecans (SSOAOD) reveals a cumulative effect on stature caused by mutations in COL1A1 and ACAN genes.
Ye X, Fang D, He Y, Yan H, Qiu W, Sun Y. Ye X, et al. Among authors: sun y. Eur J Med Genet. 2020 Dec;63(12):104074. doi: 10.1016/j.ejmg.2020.104074. Epub 2020 Sep 24. Eur J Med Genet. 2020. PMID: 32980524
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