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An adult patient with Nijmegen Breakage Syndrome and Hodgkin's Lymphoma

✍ Scribed by Engel, Katharina ;Rudelius, Martina ;Meinel, Felix G ;Peschel, Christian ;Keller, Ulrich

Book ID: 121565663
Publisher: Springer (Biomed Central Ltd.)
Year: 2014
Tongue: English
Weight: 329 KB
Volume: 14
Category: Article
ISSN: 2052-1839
DOI: 10.1186/2052-1839-14-2

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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