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Omenn Syndrome is Associated with Mutations in DNA Ligase IV

✍ Scribed by Kim, V.H.D.; Grunebaum, E.; Bates, A.; Roifman, C.M.

Book ID
119281187
Publisher
Elsevier Science
Year
2009
Tongue
English
Weight
43 KB
Volume
123
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