A novel SOX9 mutation, 972delC, causes 46,XY sex-reversed campomelic dysplasia with nephrocalcinosis, urolithiasis, and dysgerminoma

✍ Scribed by Nicholas G. Cost; Aaron T. Ludwig; Duncan T. Wilcox; Dinesh Rakheja; Steven J. Steinberg; Linda A. Baker

• Book ID: 116687493
• Publisher: Elsevier Science
• Year: 2009
• Tongue: English
• Weight: 533 KB
• Volume: 44
• Category: Article
• ISSN: 0022-3468
• DOI: 10.1016/j.jpedsurg.2008.10.003