A KRT6A mutation p.Ile462Asn in a Chinese family with pachyonychia congenita, and identification of maternal mosaicism: a case report.
Li Y, Wang Y, Ming Y, Chaolan P, Jia Z, Cheng N, Qiaoyu C, Li M, Tianyi X. BMC Med Genomics. 2021 Nov 1; 14(1):259. Epub 2021 Nov 1.