Whole exome sequencing identifies a mutation for a novel form of corneal intraepithelial dyskeratosis

• المؤلفون الرئيسيون: Maurer-Stroh, Sebastian, Soler, V. J., Tran-Viet, K.-N., Galiacy, S. D., Limviphuvadh, V., Klemm, T. P., St Germain, E., Fournie, P. R., Guillaud, C., Hawthorne, F., Suarez, C., Kantelip, B., Afshari, N. A., Creveaux, I., Luo, X., Meng, W., Calvas, P., Cassagne, M., Arne, J.-L., Malecaze, F., Young, T. L., Rozen, Steve G.
• مؤلفون آخرون: School of Biological Sciences
• التنسيق: مقال
• اللغة: English
• منشور في: 2013
• الموضوعات: DRNTU::Science::Biological sciences
• الوصول للمادة أونلاين: https://hdl.handle.net/10356/105013; http://hdl.handle.net/10220/16570
• المؤسسة: Nanyang Technological University

Background Corneal intraepithelial dyskeratosis is an extremely rare condition. The classical form, affecting Native American Haliwa-Saponi tribe members, is called hereditary benign intraepithelial dyskeratosis (HBID). Herein, we present a new form of corneal intraepithelial dyskeratosis for which...