Ligase IV Syndrome
Author:
Publisher
Springer New York
Link
http://link.springer.com/content/pdf/10.1007/978-1-4419-6448-9_16
Reference43 articles.
1. O’Driscoll M, Gennery AR, Seidel J et al. An overview of three new disorders associated with genetic instability: LIG4 syndrome, RS-SCID and ATR-Seckel syndrome. DNA Repair (Amsterdam) 2004; 3:1227–1235.
2. Revy P, Buck D, le Deist F et al. The repair of DNA damages/modifications during the maturation of the immune system lessons from human primary immunodeficiency disorders and animal models. Adv Immunol 2005; 87:237–295.
3. O’Driscoll M, Cerosaletti KM, Girard P et al. DNA ligase IV mutations identified in patients exhibiting developmental delay and immunodeficiency. Mol Cell 2001; 8:1175–1185.
4. Winter RM, Baraitser M. The London Dysmorphology Database. Great Britain: Oxford University Press, 2003.
5. Ben-Omran TI, Cerosaletti K, Conacannon P et al. A patient with mutations in DNA ligase IV: clinical features and overlap with Nijmegen Breakage Syndrome. Am J Med Genet 2005; 137A:283–287.
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