Article
A KRT6A mutation p.Ile462Asn in a Chinese family with pachyonychia congenita, and identification of maternal mosaicism: a case report.
BMC medical genomics - 1 Nov 2021
Li Yue, Wang Yumeng, Ming Yan, Chaolan Pan, Jia Zhang, Cheng Ni, Qiaoyu Cao, Li Ming, Tianyi Xu
Abstract excerpt
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 prominent manifestation is plantar pain. This is a further unusual case of parental mosaicism in PC. Although very rare, germ...
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.