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[Clinical phenotypes and genetic study of 2 cases with 22q13 deletion syndrome].
Luo J, Fang D, Qiu W, Xiao B, Fan Y, Ye J, Han L, Zhang H, Yu Y, Liang L, Gu X. Luo J, et al. Among authors: fang d. Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2018 Jun 10;35(3):361-365. doi: 10.3760/cma.j.issn.1003-9406.2018.03.012. Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2018. PMID: 29896732 Chinese.
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: fang d. 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
2,675 results