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Omenn syndrome is associated with mutations in DNA ligase IV

✍ Scribed by Grunebaum, Eyal; Bates, Andrea; Roifman, Chaim M.

Book ID
119280965
Publisher
Elsevier Science
Year
2008
Tongue
English
Weight
113 KB
Volume
122
Category
Article
ISSN
1097-6825

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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