A Nonsense Mutation in the Human Homolog of Drosophila rogdi Causes Kohlschutter–Tonz Syndrome

  • Adi Mory, Efrat Dagan, Barbara Illi, Philippe Duquesnoy, Shikma Mordechai, Ishai Shahor, Sveva Romani, Nivin Hawash-Moustafa, Hanna Mandel, Enza M. Valente, Serge Amselem, Ruth Gershoni-Baruch
  • The American Journal of Human Genetics, April 2012, Elsevier
  • DOI: 10.1016/j.ajhg.2012.03.005

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http://dx.doi.org/10.1016/j.ajhg.2012.03.005