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A Recurrent De Novo Heterozygous COG4 Substitution Leads to Saul-Wilson Syndrome, Disrupted Vesicular Trafficking, and Altered Proteoglycan Glycosylation

Journal Article published Oct 2018 in The American Journal of Human Genetics volume 103 issue 4 on pages 553 to 567

Authors: Carlos R. Ferreira, Zhi-Jie Xia, Aurélie Clément, David A. Parry, Mariska Davids, Fulya Taylan, Prashant Sharma, Coleman T. Turgeon, Bernardo Blanco-Sánchez, Bobby G. Ng, Clare V. Logan, Lynne A. Wolfe, Benjamin D. Solomon, Megan T. Cho, Ganka Douglas, Daniel R. Carvalho, Heiko Bratke, Marte Gjøl Haug, Jennifer B. Phillips, Jeremy Wegner, Michael Tiemeyer, Kazuhiro Aoki, Ann Nordgren, Anna Hammarsjö, Angela L. Duker, Luis Rohena, Hanne Buciek Hove, Jakob Ek, David Adams, Cynthia J. Tifft, Tito Onyekweli, Tara Weixel, Ellen Macnamara, Kelly Radtke, Zöe Powis, Dawn Earl, Melissa Gabriel, Alvaro H. Serrano Russi, Lauren Brick, Mariya Kozenko, Emma Tham, Kimiyo M. Raymond, John A. Phillips, George E. Tiller, William G. Wilson, Rizwan Hamid, May C.V. Malicdan, Gen Nishimura, Giedre Grigelioniene, Andrew Jackson, Monte Westerfield, Michael B. Bober, William A. Gahl, Hudson H. Freeze