Clinical variability and novel mutations in the NHEJ1 gene in patients with a Nijmegen breakage syndrome-like phenotype

Véronique Dutrannoy, Ilja Demuth, Ulrich Baumann, Detlev Schindler, Kateryna Konrat, Heidemarie Neitzel, Gabriele Gillessen-Kaesbach, Janina Radszewski, Susanne Rothe, Mario T. Schellenberger, Gudrun Nürnberg, Peter Nürnberg, Keng Wee Teik, Revathy Nallusamy, André Reis, Karl Sperling, Martin Digweed, Raymonda Varon*

*Corresponding author for this work
13 Citations (Scopus)

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Biochemistry, Genetics and Molecular Biology