A patient with mutations in DNA Ligase I
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Tawfeg I. Ben-Omran; Karen Cerosaletti; Patrick Concannon; Sheila Weitzman; Marj
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Article
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2005
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John Wiley and Sons
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English
β 111 KB
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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