Copy number variation of two separate regulatory regions upstream of SOX9 causes isolated 46,XY or 46,XX disorder of sex development

Background SOX9 mutations cause the skeletal malformation syndrome campomelic dysplasia in combination with XY sex reversal. Studies in mice indicate that SOX9 acts as a testis-inducing transcription factor downstream of SRY, triggering Sertoli cell and testis differentiation. An SRY-dependent testi...

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Veröffentlicht in:	Journal of medical genetics 2015-04, Vol.52 (4), p.240-247
Hauptverfasser:	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, Troppmann, Elke, Teichmann, Anne-Christin, Salfelder, Anika, Widholz, Sebastian A, Wieacker, Peter, Hiort, Olaf, Camerino, Giovanna, Radi, Orietta, Wegner, Michael, Arnold, Hans-Henning, Scherer, Gerd
Format:	Artikel
Sprache:	eng
Schlagworte:	Animals Cell Line Cloning Cohort Studies Differences of sex development Disorders of Sex Development - genetics DNA Copy Number Variations Female Genetic testing Humans Male Mice Mutation Ovaries Patients Pedigree Plasmids Regulatory Sequences, Nucleic Acid SOX9 Transcription Factor - genetics Transcription factors
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