Bohring-Opitz syndrome in Libya
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https://doi.org/10.54361/ljmr.v8i1.08Abstract
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Magini P, Della Monica M, Uzielli MLG, Mongelli P, Scarselli G, Gambineri E, Scarano G and Seri M. Two novel patients with Bohring-Opitz syndrome caused by de novo ASXL1 mutations. Am J Med Genet. 2012, 158A: 917-921.
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Kaname T, Yanagi K, Chinen Y, Makita Y, Okamoto N, Maehara H, Owan I, Kanaya F, Kubota Y, Oike Y, Yamamoto T, Kurosawa K, Fukushima Y, Bohring A, Opitz JM, Yoshiura K, Niikawa N and Naritomi K. Mutations in CD96, a member of the immunoglobulin superfamily, cause a form of the C (Opitz trigonocephaly) syndrome. Am J Hum Genet. 2007, 81: 835-841.
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Laboratorium genoomdiagnostitiek, center for human genetics, Biocientia Gmbh, Konrad- Adenaur-str.17 Germany.
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Copyright (c) 2014 Yousef Assaleh (Author)
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