Monoallelic and Biallelic Mutations in MAB21L2 Cause a Spectrum of Major Eye Malformations.
Joe Rainger,Davut Pehlivan,Stefan Johansson,Hemant Bengani,Luis Sanchez-Pulido,Kathleen A. Williamson,Mehmet Ture, Heather Barker,Karen Rosendahl,Juergen Spranger,Denise Horn,Alison Meynert,James A. B. Floyd,Trine Prescott,Carl A. Anderson,Jacqueline K. Rainger,Ender Karaca,Claudia Gonzaga-Jauregui,Shalini Jhangiani,Donna M. Muzny,Anne Seawright,Dinesh C. Soares,Mira Kharbanda,Victoria Murday,Andrew Finch,Richard A. Gibbs,Veronica van Heyningen,Martin S. Taylor,Tahsin Yakut,Per M. Knappskog,Matthew E. Hurles,Chris P. Ponting,James R. Lupski,Gunnar Houge,David R. FitzPatrick The American Journal of Human Genetics（2014）
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