1. A novel KRT16 frameshift variant causing pachyonychia congenita by re‐initiation of translation. (12th October 2022) Authors: Wang, Sai; Bai, Qianqian; Lee, Mingyang; Lin, Zhimiao; Cai, Liangqi; Wang, Huijun Journal: Journal of the European Academy of Dermatology and Venereology Issue: Volume 37:Number 2(2023) Page Start: e166 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
2. Ichthyosis with confetti caused by new and recurrent mutations in KRT10 associated with varying degrees of keratin 10 mis-localization. Issue 1 (April 2020) Authors: Pan, Yuxue; Feng, Cheng; Wang, Huijun; Lee, Mingyang; Tang, Zhanli; Lin, Zhimiao Journal: Journal of dermatological science Issue: Volume 98:Issue 1(2020) Page Start: 35 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
3. Variants in KLK11, affecting signal peptide cleavage of kallikrein-related peptidase 11, cause an autosomal-dominant cornification disorder. (20th October 2022) Authors: Gong, Zhuoqing; Dai, Shangzhi; Jiang, Xingyuan; Lee, Mingyang; Zhu, Xuejun; Wang, Huijun; Lin, Zhimiao Journal: British journal of dermatology Issue: Volume 188:Number 1(2023) Page Start: 100 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗