Article

A KRT6A Mutation p.Ile462Asn In A Chinese Family With Pachyonychia Congenita, And Identification of Maternal Mosaicism

2021-06-30

Abstract excerpt

<h4>Background: </h4> 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 the first reported case of maternal mosaicism in PC. Although ve...

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Literature Corpus work: 8661e0b1-e9f7-536a-816c-12fc2da32a12
DOI: 10.21203/rs.3.rs-634755/v1

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