Identification of a novel causative mutation in KRT1 in diffuse palmoplantar keratoderma, facilitated by whole-exome sequencing

Eur J Dermatol. 2021 Apr 1;31(2):264-265. doi: 10.1684/ejd.2021.4017.

Authors

So Takeuchi¹, Takuya Takeichi¹, Yasutoshi Ito¹, Kana Tanahashi¹, Yoshinao Muro¹, Tomoo Ogi², Masashi Akiyama¹

Affiliations

¹ Department of Dermatology, Nagoya University Graduate School of Medicine, Nagoya, Japan.
² Department of Genetics, Research Institute of Environmental Medicine, Nagoya University, Nagoya, Japan.

PMID: 33871364
DOI: 10.1684/ejd.2021.4017

No abstract available

Publication types

Case Reports
Letter

MeSH terms

Adult
Exome Sequencing
Female
Heterozygote
Humans
Keratin-1 / genetics*
Keratoderma, Palmoplantar / genetics*
Male
Mutation
Pedigree

Substances

KRT1 protein, human
Keratin-1