| 1 | LIG4, LIG4S
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| Extreme growth failure is a common presentation of ligase IV deficiency.
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| Murray JE, Bicknell LS, Yigit G, Duker AL, van Kogelenberg M, Haghayegh S, Wieczorek D, Kayserili H, Albert MH, Wise CA, Brandon J, Kleefstra T, Warris A, van der Flier M, Bamforth JS, Doonanco K, Adès L, Ma A, Field M, Johnson D, Shackley F, Firth H, Woods CG, Nürnberg P, Gatti RA, Hurles M, Bober MB, Wollnik B, Jackson AP.
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| Hum Mutat 35(1):76-85. doi: 10.1002/humu.22461. Epub 2013 Nov 8.
2014
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| 2 | LIG4, LIG4S
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| Clinical spectrum of LIG4 deficiency is broadened with severe dysmaturity, primordial dwarfism, and neurological abnormalities.
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| I Jspeert H, Warris A, van der Flier M, Reisli I, Keles S, Chishimba S, van Dongen JJ, van Gent DC, van der Burg M.
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| Hum Mutat 34(12):1611-4. doi: 10.1002/humu.22436. Epub 2013 Sep 18.
2013
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| 3 | LIG4, LIG4S
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| A novel mutation in a family with DNA ligase IV deficiency syndrome.
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| Unal S, Cerosaletti K, Uckan-Cetinkaya D, Cetin M, Gumruk F.
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| Pediatr Blood Cancer 53(3):482-4.
2009
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| 4 | LIG4, LIG4S
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| Epstein-Barr virus-associated B-cell lymphoma in a patient with DNA ligase IV (LIG4) syndrome.
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| Toita N, Hatano N, Ono S, Yamada M, Kobayashi R, Kobayashi I, Kawamura N, Okano M, Satoh A, Nakagawa A, Ohshima K, Shindoh M, Takami T, Kobayashi K, Ariga T.
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| Am J Med Genet A 143(7):742-5. 2007
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| 5 | LIG4, LIG4S
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| A patient with mutations in DNA ligase IV : clinical features and overlap with Nijmegen breakage syndrome.
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| Ben-Omran, T. I.; Cerosaletti, K.; Concannon, P.; Weitzman, S.; Nezarati, M. M.
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| Am. J. Med. Genet. 137A: 283-287. 2005
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| 6 | LIG4, LIG4S
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| A patient with mutations in DNA Ligase IV: clinical features and overlap with Nijmegen breakage syndrome.
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| Ben-Omran TI, Cerosaletti K, Concannon P, Weitzman S, Nezarati MM.
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| Am J Med Genet A 137(3):283-7. 2005
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| 7 | LIG4, LIG4S
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| Analysis of DNA ligase IV mutations found in LIG4 syndrome patients: the impact of two linked polymorphisms.
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| Girard PM, Kysela B, Harer CJ, Doherty AJ, Jeggo PA.
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| Hum Mol Genet 13(20):2369-76. Epub 2004 Aug 27. 2004
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| 8 | LIG4, LIG4S
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| DNA ligase IV mutations identified in patients exhibiting developmental delay and immunodeficiency.
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| O'Driscoll M, Cerosaletti KM, Girard PM, Dai Y, Stumm M, Kysela B, Hirsch B, Gennery A, Palmer SE, Seidel J, Gatti RA, Varon R, Oettinger MA, Neitzel H, Jeggo PA, Concannon P.
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| Mol Cell 8(6):1175-85. 2001
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