A KRT6A mutation p.Ile462Asn in a Chinese family with pachyonychia congenita, and identification of maternal mosaicism: a case report. - Li, Yue; Wang, Yumeng; Ming, Yan; Chaolan, Pan; Jia, Zhang; Cheng, Ni; Qiaoyu, Cao; Li, Ming; Tianyi, Xu (BMC Medical Genomics, 2021)