Article
A patient with mutations in DNA Ligase IV: clinical features and overlap with Nijmegen breakage syndrome.
American journal of medical genetics. Part A - 1 Sept 2005
Ben-Omran Tawfeg I, Cerosaletti Karen, Concannon Patrick, Weitzman Sheila, Nezarati Marjan M
Abstract excerpt
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, growth retardation, developmental delay, and immunodeficiency. We report a 4(1/2)-year-old boy who presented with acute T-cell leukemia....
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