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Copy number variation of two separate regulatory regions upstream of SOX9 causes isolated 46,XY or 46,XX disorder of sex development
Gwang-Jin Kim, Elisabeth Sock, Astrid Buchberger, Walter Just, Friederike Denzer, Wolfgang Hoepffner, James German, Trevor Cole, Jillian Mann, John H Seguin, William Zipf, Colm Costigan, Hardi Schmiady, Moritz Rostásy, Mildred Kramer, Simon Kaltenbach, Bernd Rösler, Ina Georg, Elke Troppmann, Anne-Christin Teichmann, Anika Salfelder, Sebastian A Widholz, Peter Wieacker, Olaf Hiort, Giovanna Camerino, Orietta Radi, Michael Wegner, Hans-Henning Arnold, Gerd Scherer

Journal of Medical Genetics Apr 2015, 52 (4) 240-247; DOI: 10.1136/jmedgenet-2014-102864

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