Mutations in SEC24D, encoding a component of the COPII machinery, cause a syndromic form of osteogenesis imperfecta

Lutz Garbes, Kyungho Kim, Angelika Rieß, Heike Hoyer-Kuhn, Filippo Beleggia, Andrea Bevot, Mi Jeong Kim, Yang Hoon Huh, Hee Seok Kweon, Ravi Savarirayan, David Amor, Purvi M. Kakadia, Tobias Lindig, Karl Oliver Kagan, Jutta Becker, Simeon Boyd, Bernd Wollnik, Oliver Semler, Stefan K. Bohlander, Jinoh KimChristian Netzer

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Medicine & Life Sciences