长岛型掌跖角化病1例基因突变检测 - 曹园园; 袁召君; 靳传洋; 王天姿; 廖晓捷; 刘红 (皮肤性病诊疗学杂志, 2025)
Keywords: 掌跖角化病; Nagashima-type; SERPINB7 gene; 长岛型; palmoplantar keratosis; 复合杂合突变; compound heter-ozygous mutations; SERPINB7基因