Familial Exudative Vitreoretinopathy, Autosomal Dominant

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Randall D. Little, Colleen Folz, Susan P. Manning, Pamela M. Swain, Shan-Chuan Zhao, Brenda Eustace, Michelle M. Lappe, Lia Spitzer, Susan Zweier, Karen Braunschweiger, Youssef Benchekroun, Xintong Hu, Ronald Adair, Linda Chee, Michael G. FitzGerald, Craig Tulig, Anthony Caruso, Nia Tzellas, Alicia Bawa, Barbara Franklin, Shannon McGuire, Xavier Nogues, Gordon Gong, Kristina M. Allen, Anthony Anisowicz, Arturo J. Morales, Peter T. Lomedico, Susan M. Recker, Paul Van Eerdewegh, Robert R. Recker, John P. Carulli, Richard G. Del Mastro, Josée Dupuis, Mark Osborne, Mark L. Johnson, A mutation in the LDL receptor-related protein 5 gene results in the autosomal dominant high-bone-mass trait. American Journal of Human Genetics. ,vol. 70, pp. 11- 19 ,(2002) , 10.1086/338450

Liesbeth Van Wesenbeeck, Erna Cleiren, Jeppe Gram, Rodney K. Beals, Olivier Bénichou, Domenico Scopelliti, Lyndon Key, Tara Renton, Cindy Bartels, Yaoqin Gong, Matthew L. Warman, Marie-Christine de Vernejoul, Jens Bollerslev, Wim Van Hul, Six Novel Missense Mutations in the LDL Receptor-Related Protein 5 (LRP5) Gene in Different Conditions with an Increased Bone Density American Journal of Human Genetics. ,vol. 72, pp. 763- 771 ,(2003) , 10.1086/368277

Hiroyuki Kondo, Shunji Kusaka, Aki Yoshinaga, Eiichi Uchio, Akihiko Tawara, Kenshi Hayashi, Tomoko Tahira, Mutations in the TSPAN12 Gene in Japanese Patients with Familial Exudative Vitreoretinopathy American Journal of Ophthalmology. ,vol. 151, pp. 1095- 1100.e1 ,(2011) , 10.1016/J.AJO.2010.11.026

Minrong Ai, Shauna Heeger, Cynthia F. Bartels, Deborah K. Schelling, Clinical and Molecular Findings in Osteoporosis-Pseudoglioma Syndrome American Journal of Human Genetics. ,vol. 77, pp. 741- 753 ,(2005) , 10.1086/497706

Satoshi Omoto, Takaaki Hayashi, Kenji Kitahara, Tomokazu Takeuchi, Yasuo Ueoka, Autosomal dominant familial exudative vitreoretinopathy in two Japanese families with FZD4mutations (H69Y and C181R) Ophthalmic Genetics. ,vol. 25, pp. 81- 90 ,(2004) , 10.1080/13816810490514270

Carmel Toomes, Helen M Bottomley, Richard M Jackson, Katherine V Towns, Sheila Scott, David A Mackey, Jamie E Craig, Li Jiang, Zhenglin Yang, Richard Trembath, Geoffrey Woodruff, Cheryl Y Gregory-Evans, Kevin Gregory-Evans, Michael J Parker, Graeme CM Black, Louise M Downey, Kang Zhang, Chris F Inglehearn, None, Mutations in LRP5 or FZD4 underlie the common familial exudative vitreoretinopathy locus on chromosome 11q. American Journal of Human Genetics. ,vol. 74, pp. 721- 730 ,(2004) , 10.1086/383202