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Dov Tiosano, Hagit N. Baris, Anlu Chen, Marrit M. Hitzert, Markus Schueler, Federico Gulluni, Antje Wiesener, Antonio Bergua, Adi Mory, Brett Copeland, Joseph G. Gleeson, Patrick Rump, Hester van Meer, Deborah A. Sival, Volker Haucke, Josh Kriwinsky, Karl X. Knaup, André Reis, Nadine N. Hauer, Emilio Hirsch, Ronald Roepman, Rolph Pfundt, Christian T. Thiel, Michael S. Wiesener, Mariam G. Aslanyan, David A. Buchner
Mutations in PIK3C2A cause syndromic short stature, skeletal abnormalities, and cataracts associated with ciliary dysfunction
www.plosgenetics.org
www.plosgenetics.org
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