Identification of HESX1 mutations in Kallmann syndrome

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Identification of HESX1 mutations in Kallmann syndrome Kayce Newbern, B.S., Nithya Natrajan, B.S., Hyung-Goo Kim, Ph.D., Lynn P. Chorich, M.S., Lisa M. Halvorson, M.D., Richard S. Cameron, Ph.D., Lawrence C. Layman, M.D.  Fertility and Sterility  Volume 99, Issue 7, Pages 1831-1837 (June 2013) DOI: 10.1016/j.fertnstert.2013.01.149 Copyright © 2013 American Society for Reproductive Medicine Terms and Conditions

Figure 1 Predicted open reading frame of human HESX1 compared with orthologous proteins of eight other higher-order species. The two boxed regions represent the highly conserved smaller N-terminal corepressor binding domain and the larger C-terminal homeodomain, respectively. The shaded regions indicate the three HESX1 mutations as identified in the genetic screen of 217 IHH/KS patients. Fertility and Sterility 2013 99, 1831-1837DOI: (10.1016/j.fertnstert.2013.01.149) Copyright © 2013 American Society for Reproductive Medicine Terms and Conditions