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An Unusual Cardiac Defect in a Patient with Clinical Features Overlapping Between Cardiofaciocutaneous and Noonan Syndromes

✍ Scribed by Holly C. DeSena; Dmitriy M. Niyazov; P. Eugene Parrino; Victor W. Lucas; Sangeeta B. Shah; Douglas S. Moodie


Book ID
114854388
Publisher
John Wiley and Sons
Year
2010
Tongue
English
Weight
379 KB
Volume
5
Category
Article
ISSN
1747-079X

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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