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Identification of a defect in DNA ligase IV in a radiosensitive leukaemia patient

✍ Scribed by E. Riballo; S.E. Critchlow; S-H. Teo; A.J. Doherty; A. Priestley; B. Broughton; B. Kysela; H. Beamish; N. Plowman; C.F. Arlett; A.R. Lehmann; S.P. Jackson; P.A. Jeggo

Book ID
114321657
Publisher
Elsevier Science
Year
1999
Tongue
English
Weight
101 KB
Volume
9
Category
Article
ISSN
0960-9822

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## Abstract The clinical phenotype of Ligase IV syndrome (LIG4 syndrome), an extremely rare autosomal recessive condition caused by mutations in the __LIG4__ gene, closely resembles that of Nijmegen breakage syndrome (NBS), and is characterized by microcephaly, characteristic facial features, growt