TY - Chinese Medical Sciences Journal A1 - 刘超, 陈晓燕, 吴文齐, 竺晓凡 T1 - KDSR基因的纯合子突变可能导致1例患儿的角化异常和血小板减少 Y1 - 2020-09-30 JF - Chinese Medical Sciences Journal JO - Chinese Medical Sciences Journal SP - 278 EP - 282 VL - 35 IS - 3 UR - http://cmsj.cams.cn N1 - 10.24920/003656 ER -