A novel SOX9 mutation, 972delC, causes 46,XY sex-reversed campomelic dysplasia with nephrocalcinosis, urolithiasis, and dysgerminoma.
Cost NG, Ludwig AT, Wilcox DT, Rakheja D, Steinberg SJ, Baker LA. A novel SOX9 mutation, 972delC, causes 46,XY sex-reversed campomelic dysplasia with nephrocalcinosis, urolithiasis, and dysgerminoma. J Pediatr Surg. 2009 Feb; 44(2):451-4.