A KRT6A mutation p.Ile462Asn in a Chinese family with pachyonychia congenita, and identification of maternal mosaicism: a case report

• Main Authors: Yue Li (Author), Yumeng Wang (Author), Yan Ming (Author), Pan Chaolan (Author), Zhang Jia (Author), Ni Cheng (Author), Cao Qiaoyu (Author), Ming Li (Author), Xu Tianyi (Author)
• Format: Book
• Published: BMC, 2021-11-01T00:00:00Z.
• Subjects: article
• Online Access: Connect to this object online.

Abstract Background Pachyonychia congenita (PC, OMIM #167200, #167210, #615726, #615728, and #615735) is a rare autosomal dominant disorder caused by keratin gene mutations in KRT6A,KRT6B,KRT6C,KRT16 or KRT17. It is characterized with nail dystrophy and palmoplantar keratoderma (PPK). The most promi...