Copy number variation of two separate regulatory regions upstream of SOX9 causes isolated 46,XY or 46,XX disorder of sex development:
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Bibliographic Details
Main Authors: Kim, Gwang-Jin (Author), Sock, Elisabeth (Author), Buchberger, Astrid (Author), Just, Walter (Author), Denzer, Friederike (Author), Hoepffner, Wolfgang (Author), German, James (Author), Cole, Trevor (Author), Mann, Jillian (Author), Seguin, John H. (Author), Zipf, William (Author), Costigan, Colm (Author), Schmiady, Hardi (Author), Rostásy, Moritz (Author), Kramer, Mildred (Author), Kaltenbach, Simon (Author), Rösler, Bernd (Author), Georg, Ina (Author), Troppmann, Elke (Author), Teichmann, Anne-Christin (Author), Salfelder, Anika (Author), Widholz, Sebastian A. (Author), Wieacker, Peter (Author), Hiort, Olaf (Author), Camerino, Giovanna (Author)
Format: Electronic eBook
Language:English
Published: Erlangen Friedrich-Alexander-Universität Erlangen-Nürnberg (FAU) 2015
Links:https://nbn-resolving.org/urn:nbn:de:bvb:29-opus4-78900
http://d-nb.info/1119451159/34
https://open.fau.de/handle/openfau/7890
Item Description:Aus: Journal of Medical Genetics 52.4 (2015): S. 240-247. <http://jmg.bmj.com/content/52/4/240>
Dieser Beitrag ist mit Zustimmung des Rechteinhabers aufgrund einer (DFG-geförderten) Allianz- bzw. Nationallizenz frei zugänglich.
This publication is with permission of the rights owner freely accessible due to an Alliance licence or a national licence (funded by the DFG, German Research Foundation) respectively.
Physical Description:1 Online-Ressource
Format:Langzeitarchivierung gewährleistet, LZA