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The clinical and biological overlap between Nijmegen Breakage Syndrome and Fanconi anemia

✍ Scribed by A.R. Gennery; M.A. Slatter; A. Bhattacharya; D. Barge; S. Haigh; M. O'Driscoll; R. Coleman; M. Abinun; T.J. Flood; A.J. Cant; P.A. Jeggo

Book ID
116366188
Publisher
Elsevier Science
Year
2004
Tongue
English
Weight
398 KB
Volume
113
Category
Article
ISSN
1090-2341

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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