A novel KRT16 frameshift variant causing pachyonychia congenita by re-initiation of translation

J Eur Acad Dermatol Venereol. 2023 Feb;37(2):e166-e168. doi: 10.1111/jdv.18580. Epub 2022 Oct 12.

Authors

Sai Wang¹, Qianqian Bai¹, Mingyang Lee¹, Zhimiao Lin^{1

2}, Liangqi Cai³, Huijun Wang²

Affiliations

¹ Department of Dermatology, Peking University First Hospital, Beijing Key Laboratory of Molecular Diagnosis on Dermatoses, National Clinical Research Center for Skin and Immune Diseases and NMPA Key Laboratory for Quality Control and Evaluation of Cosmetics, Beijing, China.
² Dermatology Hospital, Southern Medical University, Guangzhou, China.
³ Department of Dermatology, The First Affiliated Hospital of Xiamen University, Xiamen, China.

PMID: 36149327
DOI: 10.1111/jdv.18580

No abstract available

Publication types

Letter
Research Support, Non-U.S. Gov't

MeSH terms

Frameshift Mutation
Humans
Keratin-16
Mutation
Pachyonychia Congenita* / genetics

Substances

KRT16 protein, human
Keratin-16

Grants and funding