1. Copy number variation of two separate regulatory regions upstream of SOX9 causes isolated 46, XY or 46, XX disorder of sex development. Issue 4 (20th January 2015) Authors: Kim, Gwang-Jin; Sock, Elisabeth; Buchberger, Astrid; Just, Walter; Denzer, Friederike; Hoepffner, Wolfgang; German, James; Cole, Trevor; Mann, Jillian; Seguin, John H; Zipf, William; Costigan, Colm; Schmiady, Hardi; Rostásy, Moritz; Kramer, Mildred; Kaltenbach, Simon; Rösler, Bernd; Georg, Ina; T... Journal: Journal of medical genetics Issue: Volume 52:Issue 4(2015) Page Start: 240 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗