| 1 | ASXL1, BOPS
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| Screening of CD96 and ASXL1 in 11 patients with Opitz C or Bohring-Opitz syndromes.
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| Urreizti R, Roca-Ayats N, Trepat J, Garcia-Garcia F, Aleman A, Orteschi D, Marangi G, Neri G, Opitz JM, Dopazo J, Cormand B, Vilageliu L, Balcells S, Grinberg D.
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| Am J Med Genet A 170A(1):24-31. doi: 10.1002/ajmg.a.37418.
2016
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| 2 | ASXL1, ASXL3, BOPS, BRPS
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| Expanding our knowledge of conditions associated with the ASXL gene family.
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| Russell B, Graham JM Jr.
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| Genome Med 5(2):16. doi: 10.1186/gm420.
2013
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| 3 | ASXL1, BOPS
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| Two novel patients with Bohring-Opitz syndrome caused by de novo ASXL1 mutations.
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| Magini P, Monica MD, Uzielli ML, Mongelli P, Scarselli G, Gambineri E, Scarano G, Seri M.
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| Am J Med Genet A 158A(4):917-21. doi: 10.1002/ajmg.a.35265. Epub 2012 Mar 14.
2012
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| 4 | ASXL1, BOPS
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| De novo nonsense mutations in ASXL1 cause Bohring-Opitz syndrome.
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| Hoischen A, van Bon BW, Rodríguez-Santiago B, Gilissen C, Vissers LE, de Vries P, Janssen I, van Lier B, Hastings R, Smithson SF, Newbury-Ecob R, Kjaergaard S, Goodship J, McGowan R, Bartholdi D, Rauch A, Peippo M, Cobben JM, Wieczorek D, Gillessen-Kaesbach G, Veltman JA, Brunner HG, de Vries BB.
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| Nat Genet 43(8):729-31. doi: 10.1038/ng.868.
2011
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| 5 | BOPS
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| New cases of Bohring-Opitz syndrome, update, and critical review of the literature.
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| Bohring A, Oudesluijs GG, Grange DK, Zampino G, Thierry P.
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| Am J Med Genet A 140(12):1257-63. Review.
2006
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| 6 | BOPS
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| Siblings with Bohring-Opitz syndrome.
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| Greenhalgh KL, Newbury-Ecob RA, Lunt PW, Dolling CL, Hargreaves H, Smithson SF.
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| Clin Dysmorphol 12(1):15-9.
2003
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| 7 | BOPS
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| Severe end of Opitz trigonocephaly (C) syndrome or new syndrome?
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| Bohring A, Silengo M, Lerone M, Superneau DW, Spaich C, Braddock SR, Poss A, Opitz JM.
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| Am J Med Genet 85(5):438-46. Review.
1999
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