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Chronic granulomas in a patient with Nijmegen breakage syndrome

Book ID
116582569
Publisher
Elsevier Science
Year
2007
Tongue
English
Weight
50 KB
Volume
56
Category
Article
ISSN
1097-6787

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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