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Mutations in lectin complement pathway genes COLEC11 and MASP1 cause 3MC syndrome.
Rooryck C, Diaz-Font A, Osborn DP, Chabchoub E, Hernandez-Hernandez V, Shamseldin H, Kenny J, Waters A, Jenkins D, Kaissi AA, Leal GF, Dallapiccola B, Carnevale F, Bitner-Glindzicz M, Lees M, Hennekam R, Stanier P, Burns AJ, Peeters H, Alkuraya FS, Beales PL. Rooryck C, et al. Among authors: kaissi aa. Nat Genet. 2011 Mar;43(3):197-203. doi: 10.1038/ng.757. Epub 2011 Jan 23. Nat Genet. 2011. PMID: 21258343 Free PMC article.
Hypohidrotic ectodermal dysplasia with tibial aplasia.
Kaissi AA, Ghachem MB, Necib MN, Chehida FB, Karoui H, Baraitser M. Kaissi AA, et al. Clin Dysmorphol. 2002 Jul;11(3):175-8. doi: 10.1097/00019605-200207000-00004. Clin Dysmorphol. 2002. PMID: 12072795
A novel form of ischio-vertebral syndrome.
Kaissi AA, Chehida FB, Latos-Bielenska A, Gharbi H, Ghachem MB, Hendaoui L, Kozlowski K. Kaissi AA, et al. Skeletal Radiol. 2007 Jan;36(1):77-81. doi: 10.1007/s00256-005-0073-1. Epub 2006 Mar 18. Skeletal Radiol. 2007. PMID: 16547749
Spine malformation complex in 3 diverse syndromic entities: Case reports.
Kaissi AA, van Egmond-Fröhlich A, Ryabykh S, Ochirov P, Kenis V, Hofstaetter JG, Grill F, Ganger R, Kircher SG. Kaissi AA, et al. Medicine (Baltimore). 2016 Dec;95(50):e5505. doi: 10.1097/MD.0000000000005505. Medicine (Baltimore). 2016. PMID: 27977582 Free PMC article.
30 results