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Clinical variability and novel neurodevelopmental findings in 49, XXXXY syndrome

✍ Scribed by Andrea L. Gropman; Alan Rogol; Ilene Fennoy; Teresa Sadeghin; Stephanie Sinn; Robert Jameson; Francine Mitchell; Jaye Clabaugh; Margaret Lutz-Armstrong; Carole A. Samango-Sprouse


Book ID
101447729
Publisher
John Wiley and Sons
Year
2010
Tongue
English
Weight
249 KB
Volume
152A
Category
Article
ISSN
1552-4825

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We have previously shown that mutations in the genes encoding DNA Ligase IV (LIGIV) and RAD50, involved in DNA repair by nonhomologous-end joining (NHEJ) and homologous recombination, respectively, lead to clinical and cellular features similar to those of Nijmegen Breakage Syndrome (NBS). Very rece