Citations for
1ADAMTS2, EDS7C
Multiple congenital skull fractures as a presentation of Ehlers-Danlos syndrome type VIIC.
Bar-Yosef O, Polak-Charcon S, Hoffman C, Feldman ZP, Frydman M, Kuint J.
Am J Med Genet A 146A(23):3054-7. 2008
2NAO, EDS7C, HSCR5, HYP1, MADYS2, PYCD, PALS, ALPS2, LGMD2A, CASP8D, CYLD
The genetic and molecular bases of monogenic disorders affecting proteolytic systems.
Richard I.
J Med Genet 42(7):529-39. 2005
3ADAMTS2, EDS7C
The natural history, including orofacial features of three patients with Ehlers-Danlos syndrome, dermatosparaxis type (EDS type VIIC).
Malfait F, De Coster P, Hausser I, van Essen AJ, Franck P, Colige A, Nusgens B, Martens L, De Paepe A.
Am J Med Genet 131A(1):18-28. 2004
4EDS7C, ADAMTS2
Novel types of mutation responsible for the dermatosparactic type of Ehlers-Danlos syndrome (Type VIIC) and common polymorphisms in the ADAMTS2 gene.
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.
J Invest Dermatol 123(4):656-63. 2004
5ADAMTS2, EDS7C
Human Ehlers-Danlos syndrome type VII C and bovine dermatosparaxis are caused by mutations in the procollagen I N-proteinase gene.
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.
Am J Hum Genet 65(2):308-17. 1999