| 1 | ADAMTS2, EDS7C
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| Multiple congenital skull fractures as a presentation of Ehlers-Danlos syndrome type VIIC.
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| Bar-Yosef O, Polak-Charcon S, Hoffman C, Feldman ZP, Frydman M, Kuint J.
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| Am J Med Genet A 146A(23):3054-7.
2008
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| 2 | NAO, EDS7C, HSCR5, HYP1, MADYS2, PYCD, PALS, ALPS2, LGMD2A, CASP8D, CYLD
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| The genetic and molecular bases of monogenic disorders affecting proteolytic systems.
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| Richard I.
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| J Med Genet 42(7):529-39. 2005
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| 3 | ADAMTS2, EDS7C
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| The natural history, including orofacial features of three patients with Ehlers-Danlos syndrome, dermatosparaxis type (EDS type VIIC).
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| Malfait F, De Coster P, Hausser I, van Essen AJ, Franck P, Colige A, Nusgens B, Martens L, De Paepe A.
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| Am J Med Genet 131A(1):18-28. 2004
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| 4 | EDS7C, ADAMTS2
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| Novel types of mutation responsible for the dermatosparactic type of Ehlers-Danlos syndrome (Type VIIC) and common polymorphisms in the ADAMTS2 gene.
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| Colige A, Nuytinck L, Hausser I, van Essen AJ, Thiry M, Herens C, Ades LC, Malfait F, Paepe AD, Franck P, Wolff G, Oosterwijk JC, Smitt JH, Lapiere CM, Nusgens BV.
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| J Invest Dermatol 123(4):656-63. 2004
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| 5 | ADAMTS2, EDS7C
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| Human Ehlers-Danlos syndrome type VII C and bovine dermatosparaxis are caused by mutations in the procollagen I N-proteinase gene.
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| Colige A, Sieron AL, Li SW, Schwarze U, Petty E, Wertelecki W, Wilcox W, Krakow D, Cohn DH, Reardon W, Byers PH, Lapiere CM, Prockop DJ, Nusgens BV.
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| Am J Hum Genet 65(2):308-17. 1999
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