A 37-kb Deletion in Region 16p13.3 in an Infant with Osteopetrosis and Congenital Diarrhea Including the CLCN7 and PERCC1 Genes
一名患有骨硬化症和先天性腹泻的婴儿,其16p13.3区域存在37 kb的缺失,其中包括CLCN7和PERCC1基因。
期刊:Molecular Syndromology
影响因子:0.9
doi:10.1159/000538395
Sandal, Semih; Kayhan, Gulsum; Kahvecioglu, Dilek; Vezir, Emine; Kilic, Ayse; Köse, Aslihan; Tas Ersun, Melda; Derme, Turan; Bahap, Yusuf; Dereci, Selim; Hizli, Samil