Screening of the 1 Mb SOX9 5' control region by array CGH identifies a large deletion in a case of campomelic dysplasia with XY sex reversal
通过阵列 CGH 筛查 1 Mb SOX9 5' 控制区,在 XY 性逆转的 Campomelic 发育不良病例中发现了一个大的缺失
期刊:Journal of Medical Genetics
影响因子:3.5
doi:10.1136/jmg.2003.013185
R Pop, C Conz, K S Lindenberg, S Blesson, B Schmalenberger, S Briault, D Pfeifer, G Scherer