A recurrent missense mutation in the KRT16 gene causing pachyonychia congenita in a patient

Int J Dermatol. 2024 Feb;63(2):e47-e49. doi: 10.1111/ijd.16975. Epub 2023 Dec 13.

Authors

Jia-Rong Cheng^{1

2}, Han Mao^{1

2}, Hai-Zhen Hui¹, Sheng Li¹, Yuan-Fang Wan¹, Bing-Jun Shi¹

Affiliations

¹ Department of Dermatology, Chongqing Hospital of Traditional Chinese Medicine (Chongqing Clinical Research Center for Dermatology, Chongqing Key Laboratory of Integrative Dermatology Research), District Yuzhong, Chongqing, PR China, Chongqing, P.R. China.
² Guizhou University of Traditional Chinese Medicine, Guiyang, P.R. China.

PMID: 38093419
DOI: 10.1111/ijd.16975

No abstract available

Publication types

Case Reports
Letter

MeSH terms

Humans
Keratin-16 / genetics
Keratin-6 / genetics
Mutation
Mutation, Missense
Pachyonychia Congenita* / diagnosis
Pachyonychia Congenita* / genetics

Substances

Keratin-16
Keratin-6
KRT16 protein, human