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 Takeuchi
1
,
Takuya Takeichi
1
,
Yasutoshi Ito
1
,
Kana Tanahashi
1
,
Yoshinao Muro
1
,
Tomoo Ogi
2
,
Masashi Akiyama
1
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