Novel missense mutation c.539A>G; p.Glu180Gly in keratin 1 causing epidermolytic ichthyosis
J Dermatol
.
2021 Dec;48(12):e579-e580.
doi: 10.1111/1346-8138.16142.
Epub 2021 Sep 5.
Authors
Miho Sashikawa
1
,
Hidetoshi Tsuda
1
,
Mayumi Komine
1
,
Mamitaro Ohtsuki
1
Affiliation
1
Department of Dermatology, Jichi Medical University, Shimotsuke, Japan.
PMID:
34486163
DOI:
10.1111/1346-8138.16142
No abstract available
Publication types
Case Reports
Letter
MeSH terms
Humans
Hyperkeratosis, Epidermolytic* / diagnosis
Hyperkeratosis, Epidermolytic* / genetics
Keratin-1 / genetics*
Mutation, Missense
Pedigree
Substances
Keratin-1