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DNA Ligase IV Mutations Identified in Patients Exhibiting Developmental Delay and Immunodeficiency

✍ Scribed by Mark O'Driscoll; Karen M. Cerosaletti; Pierre-M Girard; Yan Dai; Markus Stumm; Boris Kysela; Betsy Hirsch; Andrew Gennery; Susan E. Palmer; Jörg Seidel; Richard A. Gatti; Raymonda Varon; Marjorie A. Oettinger; Heidemarie Neitzel; Penny A. Jeggo; Patrick Concannon

Book ID: 117736679
Publisher: Elsevier Science
Year: 2001
Tongue: English
Weight: 447 KB
Volume: 8
Category: Article
ISSN: 1097-2765
DOI: 10.1016/s1097-2765(01)00408-7

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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