@article{article33dbe8b3,
title   = {Nager syndrome: Confirmation of SF3B4 haploinsufficience as the major cause},
author = {Petit, F. and Escande, F. and Jourdain, A. S. and Porchet, N. and Amiel, J. and Doray, B. and Deirue, M. A. and Kim, C. A. and Marlin, S. and Robertson, S. P. and Manouvrier-Hanu, S. and Holder-Espinasse, M.},
year = {2014},
doi = {10.1111/cge.12259},
journal   = {Clinical Genetics}
}