PMC Links for GEO Profiles (Select 48874596) - PMC

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Items: 3

Select item 43421661.

Mutations in MAB21L2 Result in Ocular Coloboma, Microcornea and Cataracts

Brett Deml, Ariana Kariminejad, Razieh H. R. Borujerdi, Sanaa Muheisen, Linda M. Reis, Elena V. Semina

PLoS Genet. 2015 Feb; 11(2): e1005002. Published online 2015 Feb 26. doi: 10.1371/journal.pgen.1005002

PMCID:: PMC4342166

Abstract Article PDF–16M

Select item 41214782.

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, Jürgen 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, UK10K, Baylor-Hopkins Center for Mendelian Genomics, 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

Am J Hum Genet. 2014 Jun 5; 94(6): 915–923. doi: 10.1016/j.ajhg.2014.05.005