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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.
Kim GJ, Sock E, Buchberger A, Just W, Denzer F, Hoepffner W, German J, Cole T, Mann J, Seguin JH, Zipf W, Costigan C, Schmiady H, Rostásy M, Kramer M, Kaltenbach S, Rösler B, Georg I, Troppmann E, Teichmann AC, Salfelder A, Widholz SA, Wieacker P, Hiort O, Camerino G, Radi O, Wegner M, Arnold HH, Scherer G. Kim GJ, et al. Among authors: hiort o. J Med Genet. 2015 Apr;52(4):240-7. doi: 10.1136/jmedgenet-2014-102864. Epub 2015 Jan 20. J Med Genet. 2015. PMID: 25604083
New NR5A1 mutations and phenotypic variations of gonadal dysgenesis.
Werner R, Mönig I, Lünstedt R, Wünsch L, Thorns C, Reiz B, Krause A, Schwab KO, Binder G, Holterhus PM, Hiort O. Werner R, et al. Among authors: hiort o. PLoS One. 2017 May 1;12(5):e0176720. doi: 10.1371/journal.pone.0176720. eCollection 2017. PLoS One. 2017. PMID: 28459839 Free PMC article.
248 results