IDENTIFICATION OF SMCHD1 MUTATIONS IN A SEVERE FORM OF KALLMANN SYNDROME (KS) WITH ABSENCE OF THE NOSE (ARHINIA) ATTESTS TO THE POWER OF EXTREME PHENOTYPES IN HUMAN REPRODUCTIVE GENE DISCOVERY Natalie D. Shaw , Harrison Brand , Zachary A. Kupchinsky , Hemant Bengani , Lacey Plummer , Takako I. Jones , Serkan Erdin , Kathleen A. Williamson , Joe Rainger , Alexei Stortchevoi , Kaitlin Samocha , Benjamin B. Currall , Donncha S. Dunican , Ryan L. Collins , Jason R. Willer , Angela Lek , Monkol Lek , Malik Nassan , Shahrin Pereira , Tammy Kammin , Diane Lucente , Alexandra Silva , Catarina M. Seabra , Colby Chiang , Yu An , Morad Ansari , Jacqueline K. Rainger , Shelagh Joss , Jill Clayton Smith , Margaret F. Lippincott , Syliva S. Singh , Nirav Patel , Jenny W. Jing , Jennifer R. Law , Nalton Ferraro , Alain Verloes , Anita Rauch , Katharina Steindl , Markus Zweier , Ianina Scheer , Daisuke Sato , Nobuhiko Okamoto , Christiana Jacobsen , Jeanine Tryggestad , Steven D. Chernausek , Lisa A. Schimmenti , Benjamin Brasseur , Claudia Cesaretti , Jose E. Garcia-Ortiz , Tatiana Pineda Buitrago , Orlando Perez Silva , Jodi D. Hoffman , Wolfgang Muhlbauer , Klaus W. Ruprecht , Bart L. Loeys , Masato Shino , Angela M. Kaindl , Ravikumar Balasubramanian , Janet E. Hall , Stephanie B. Seminara , Daniel Macarthur , Steven A. Moore , Koh-Ichiro Yoshiura , James F. Gusella , Joseph A. Marsh , Jr. Graham John M. , Angela E. Lin , Nicholas Katsanis , Peter L. Jones , Jr. Crowley William F. , Erica E. Davis , David R. Fitzpatrick , Michael E. Talkowski , Chie-Hee Cho , Cynthia C. Morton , Richard R. Meehan , Veronica Van Heyningen , Eric C. Liao HORMONE RESEARCH IN PAEDIATRICS（2017）
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